ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1185C>T (p.Pro395=)

dbSNP: rs369036204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002153883 SCV002465074 likely benign RASopathy 2022-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337371 SCV002638399 likely benign Cardiovascular phenotype 2021-04-02 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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