ClinVar Genomic variation as it relates to human health
NM_152468.5(TMC8):c.42G>A (p.Gly14=)
Germline
Classification
(1)
Likely benign
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 | |||
LOC130061792 | - | - | - | GRCh38 | - | 63 |
TMC6 | - | - |
GRCh38 GRCh37 |
700 | 855 | |
TMC8 | - | - |
GRCh38 GRCh37 |
457 | 604 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 9, 2023 | RCV003874780.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 01, 2024