ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) (rs35690719)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000611831 SCV000744851 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000611831 SCV000733050 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
GeneDx RCV000035401 SCV000729091 likely benign not specified 2017-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000232444 SCV000284210 benign Hypertrophic cardiomyopathy 2016-11-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035401 SCV000059049 likely benign not specified 2015-03-27 criteria provided, single submitter clinical testing p.Asp489Asp in exon 17 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (29/8624) o f East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs35690719).

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