ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.897del (p.Lys301fs) (rs1555122928)

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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 RCV000625030 SCV000743569 pathogenic Familial hypertrophic cardiomyopathy 4 2016-05-23 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625030 SCV000744863 pathogenic Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770374 SCV000901815 likely pathogenic Cardiomyopathy 2015-07-20 criteria provided, single submitter clinical testing

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