ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) (rs397515880)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035363 SCV000059011 likely benign not specified 2012-11-15 criteria provided, single submitter clinical testing Ile336Ile in exon 12 of MYBPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. Ile336Ile in exon 12 of MYBPC3 (allele fre quency = n/a)
Ambry Genetics RCV000241564 SCV000317964 likely benign Cardiovascular phenotype 2012-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000035363 SCV000513752 likely benign not specified 2016-07-21 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000607104 SCV000744856 likely benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000629171 SCV000750087 likely benign Hypertrophic cardiomyopathy 2017-12-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769353 SCV000900741 likely benign Cardiomyopathy 2016-03-15 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000607104 SCV000733055 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing

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