ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1521C>T (p.Ser507=)

dbSNP: rs143060134
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234144 SCV000291907 benign Brugada syndrome 4 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243143 SCV000318408 likely benign Cardiovascular phenotype 2015-11-27 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.
GeneDx RCV001636734 SCV001848041 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000234144 SCV002049908 benign Brugada syndrome 4 2021-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001636734 SCV004009975 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing CACNB2: BP4, BP7, BS2; ENSG00000240291: BS2
Clinical Genetics, Academic Medical Center RCV001699169 SCV001923839 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001699169 SCV001959686 benign not specified no assertion criteria provided clinical testing

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