ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp)

dbSNP: rs137886839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249316 SCV000320493 benign Cardiovascular phenotype 2023-07-06 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000479313 SCV000570754 likely benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865251 SCV001006187 likely benign Brugada syndrome 4 2024-01-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844103 SCV002104133 likely benign not specified 2022-02-05 criteria provided, single submitter clinical testing

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