Submissions for variant NM_002890.3(RASA1):c.612T>C (p.Tyr204=)

dbSNP: rs377014568

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000398495	SCV000458955	likely benign	Capillary malformation-arteriovenous malformation 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304263	SCV000458956	likely benign	Parkes Weber syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869395	SCV001010818	benign	Capillary malformation-arteriovenous malformation syndrome	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356485	SCV002655650	likely benign	Cardiovascular phenotype	2017-06-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV004584694	SCV005075515	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	RASA1: BP4, BP7, BS1, BS2