ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.1956-4del (rs3083235)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078746 SCV000562249 benign Brugada syndrome 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000710354 SCV000714606 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617848 SCV000736396 benign Cardiovascular phenotype 2017-03-08 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
Athena Diagnostics Inc RCV000710354 SCV000840557 benign not provided 2018-05-14 criteria provided, single submitter clinical testing

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