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

gnomAD frequency: 0.02050  dbSNP: rs111840875

Total submissions: 12

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
Labcorp Genetics (formerly Invitae), Labcorp	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: seen in unaffected individuals, 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
Breakthrough Genomics, Breakthrough Genomics	RCV001812199	SCV005226334	likely benign	not provided		criteria provided, single submitter	not provided
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