ClinVar Genomic variation as it relates to human health
NM_020458.4(TTC7A):c.145C>A (p.Arg49=)
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 | |||
MCFD2 | - | - |
GRCh38 GRCh37 |
143 | 246 | |
TTC7A | - | - |
GRCh38 GRCh37 |
906 | 1056 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Dec 9, 2023 | RCV003877344.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 07, 2024