ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.342C>T (p.Pro114=)

gnomAD frequency: 0.00004  dbSNP: rs368505003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646211 SCV000767970 likely benign Brugada syndrome 4 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001712536 SCV001945249 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002406418 SCV002714009 likely benign Cardiovascular phenotype 2020-12-01 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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