ClinVar Miner

Submissions for variant NM_002890.3(RASA1):c.1348C>T (p.Leu450Phe)

gnomAD frequency: 0.00001  dbSNP: rs757166432
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865993 SCV001007027 likely benign Capillary malformation-arteriovenous malformation syndrome 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811521 SCV002050034 likely benign not provided 2021-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381936 SCV002689908 likely benign Cardiovascular phenotype 2021-12-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003918376 SCV004737049 likely benign RASA1-related condition 2019-05-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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