ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.183A>G (p.Gln61=)

gnomAD frequency: 0.00001  dbSNP: rs371640183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153949 SCV000203567 uncertain significance not provided 2014-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056048 SCV002429421 likely benign RASopathy 2023-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162625 SCV003913394 likely benign Cardiovascular phenotype 2023-02-11 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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