ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1488+13_1488+33dup

gnomAD frequency: 0.00361  dbSNP: rs757040188
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480886 SCV000566415 likely benign not specified 2016-07-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803777 SCV002048547 likely benign Brugada syndrome 4 2021-03-13 criteria provided, single submitter clinical testing
Invitae RCV001803777 SCV002339598 benign Brugada syndrome 4 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003419791 SCV004126523 benign not provided 2022-11-01 criteria provided, single submitter clinical testing CACNB2: BS1, BS2

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