ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1701C>T (p.Tyr567=)

gnomAD frequency: 0.19212  dbSNP: rs2228645
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253602 SCV000317156 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250713 SCV000317402 benign Cardiovascular phenotype 2015-06-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV000860378 SCV001000415 benign Brugada syndrome 4 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001660385 SCV001874966 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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