ClinVar Genomic variation as it relates to human health
NM_018834.6(MATR3):c.1252C>T (p.Leu418=)
Germline
Classification
(2)
Likely benign
criteria provided, multiple submitters, no conflicts
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 | |||
MATR3 | - | - |
GRCh38 GRCh37 |
415 | 535 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Oct 16, 2023 | RCV003848516.1 | |
MATR3-related disorder
|
Likely benign (1) |
|
Feb 8, 2023 | RCV004542298.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 18, 2024