ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.354G>A (p.Ala118=)

gnomAD frequency: 0.00107  dbSNP: rs182163363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475844 SCV000562839 benign Brugada syndrome 4 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001612946 SCV001835837 benign not provided 2018-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411192 SCV002720981 likely benign Cardiovascular phenotype 2018-06-25 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.
Clinical Genetics, Academic Medical Center RCV001699433 SCV001920660 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001612946 SCV001965659 likely benign not provided no assertion criteria provided clinical testing

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