ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.2286C>T (p.His762=)

gnomAD frequency: 0.00030  dbSNP: rs373059169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863664 SCV001004360 benign Capillary malformation-arteriovenous malformation syndrome 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001152667 SCV001313890 benign Capillary malformation-arteriovenous malformation 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV002442802 SCV002734732 likely benign Cardiovascular phenotype 2018-03-01 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 RCV003432801 SCV004159086 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing RASA1: BP4, BP7

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