ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1794T>C (p.Ser598=) (rs34503140)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000269229 SCV000361817 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001081317 SCV000562841 benign Brugada syndrome 4 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620685 SCV000735161 benign Cardiovascular phenotype 2015-08-07 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755890 SCV000883537 benign not provided 2018-05-15 criteria provided, single submitter clinical testing

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