ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1560T>C (p.Pro520=)

gnomAD frequency: 0.00099  dbSNP: rs150280879
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124109 SCV000167518 benign not specified 2014-03-29 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.
Ambry Genetics RCV000241586 SCV000319530 likely benign Cardiovascular phenotype 2015-03-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000469061 SCV000562835 benign Brugada syndrome 4 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000469061 SCV000743844 benign Brugada syndrome 4 2017-03-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000469061 SCV001471436 likely benign Brugada syndrome 4 2020-06-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003415930 SCV004126525 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CACNB2: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center RCV000124109 SCV001925120 benign not specified no assertion criteria provided clinical testing

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