ClinVar Miner

Submissions for variant NM_005633.4(SOS1):c.3900A>G (p.Gln1300=)

gnomAD frequency: 0.00001  dbSNP: rs1343754754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719150 SCV000732710 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105999 SCV003780356 likely benign RASopathy 2023-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004992405 SCV005506120 likely benign Cardiovascular phenotype 2024-10-22 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.

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