ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p21.1(chr1:103555105-104992515)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
COL11A1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2601 | 2695 | |
AMY1A | - | - |
GRCh38 GRCh37 |
9 | 41 | |
AMY1B | - | - |
GRCh38 GRCh37 |
5 | 32 | |
AMY1C | - | - |
GRCh38 GRCh37 |
3 | 30 | |
AMY2A | - | - |
GRCh38 GRCh37 |
25 | 59 | |
AMY2B | - | - |
GRCh38 GRCh37 |
52 | 86 | |
RNPC3 | - | - |
GRCh38 GRCh37 |
49 | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 9, 2017 | RCV000684609.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022