ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q26.2-26.3(chr15:98144229-99857338)x1
Germline
Classification
(1)
Likely pathogenic
no assertion criteria provided
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 | |||
IGF1R | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
979 | 1120 | |
ARRDC4 | - | - |
GRCh38 GRCh37 |
24 | 93 | |
LRRC28 | - | - | - |
GRCh38 GRCh37 |
17 | 114 |
PGPEP1L | - | - | - |
GRCh38 GRCh37 |
26 | 127 |
SYNM | - | - |
GRCh38 GRCh37 |
95 | 236 | |
TTC23 | - | - | - |
GRCh38 GRCh37 |
3 | 107 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Nov 16, 2017 | RCV000683721.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022