ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.726C>T (p.Ala242=)

dbSNP: rs746812420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001842538 SCV001356524 likely benign Cardiac arrhythmia 2019-02-08 criteria provided, single submitter clinical testing
Invitae RCV001436685 SCV001639529 likely benign Brugada syndrome 2018-09-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700477 SCV001917176 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000869407 SCV001930021 likely benign not provided no assertion criteria provided clinical testing

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