ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CCT6A | - | - |
GRCh38 GRCh37 |
21 | 55 | |
CHCHD2 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
LANCL2 | - | - |
GRCh38 GRCh37 |
24 | 53 | |
MRPS17 | - | - |
GRCh38 GRCh37 |
8 | 37 | |
NIPSNAP2 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
NUPR2 | - | - | - |
GRCh38 GRCh37 |
3 | 22 |
PHKG1 | - | - |
GRCh38 GRCh37 |
2 | 71 | |
PSPH | - | - |
GRCh38 GRCh37 |
170 | 203 | |
SEPTIN14 | - | - |
GRCh38 GRCh37 |
44 | 72 | |
SUMF2 | - | - |
GRCh38 GRCh37 |
46 | 115 |
There are 4 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 23, 2023 | RCV003484683.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024