ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) (rs397516053)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000602854 SCV000743582 pathogenic Familial hypertrophic cardiomyopathy 4 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000602854 SCV000744879 pathogenic Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602854 SCV000733074 pathogenic Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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