ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.926+8C>T (rs377595584)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625028 SCV000744861 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625028 SCV000743567 benign Familial hypertrophic cardiomyopathy 4 2017-06-27 criteria provided, single submitter clinical testing
Invitae RCV000457720 SCV000558148 likely benign Hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035680 SCV000059331 likely benign not specified 2015-04-09 criteria provided, single submitter clinical testing c.926+8C>T in intron 11 of MYBPC3: This variant is not expected to have clinical significance because it is not located in the conserved region of the splicing consensus sequence. It has been identified in 33/62508 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs377595584).

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