ClinVar Genomic variation as it relates to human health
NM_001085049.3(MRAS):c.192C>T (p.Asp64=)
Germline
Classification
(3)
Conflicting classifications of pathogenicity
Uncertain significance(1); Likely benign(2)
Uncertain significance(1); Likely benign(2)
criteria provided, conflicting classifications
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 | |||
MRAS | - | - |
GRCh38 GRCh37 |
189 | 215 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 7, 2022 | RCV002410873.2 | |
Uncertain significance (1) |
|
Apr 4, 2022 | RCV003108092.4 | |
MRAS-related disorder
|
Likely benign (1) |
|
Feb 15, 2022 | RCV003943399.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024