ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q12.11(chr13:19748336-20797299)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 | |||
GJB2 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
570 | 637 | |
GJB6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
194 | 278 | |
GJA3 | - | - |
GRCh38 GRCh37 |
244 | 304 | |
MPHOSPH8 | - | - |
GRCh38 GRCh37 |
34 | 93 | |
PSPC1 | - | - |
GRCh38 GRCh37 |
22 | 79 | |
TPTE2 | - | - |
GRCh38 GRCh37 |
38 | 80 | |
TUBA3C | - | - |
GRCh38 GRCh37 |
27 | 59 | |
ZMYM2 | - | - |
GRCh38 GRCh37 |
219 | 286 | |
ZMYM5 | - | - |
GRCh38 GRCh37 |
29 | 94 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV004442823.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024