ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.296C>T (p.Ala99Val)

gnomAD frequency: 0.02050  dbSNP: rs111840875
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199589 SCV000250640 benign not specified 2015-04-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000199589 SCV000338935 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000279612 SCV000458947 likely benign Parkes Weber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351057 SCV000458948 likely benign Capillary malformation-arteriovenous malformation 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001083983 SCV000562857 benign Capillary malformation-arteriovenous malformation syndrome 2024-02-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812199 SCV000605003 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433880 SCV002752089 benign Cardiovascular phenotype 2015-09-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002485302 SCV002802394 likely benign Basal cell carcinoma, susceptibility to, 1; Capillary malformation-arteriovenous malformation 1 2022-02-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812199 SCV004159081 benign not provided 2023-08-01 criteria provided, single submitter clinical testing RASA1: BS1, BS2
Clinical Genetics, Academic Medical Center RCV000199589 SCV001922811 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000199589 SCV001951662 benign not specified no assertion criteria provided clinical testing

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