ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) (rs200224422)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252863 SCV000318596 likely benign Cardiovascular phenotype 2015-08-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000771165 SCV000903049 likely benign Cardiomyopathy 2018-03-05 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000599760 SCV000744848 benign Familial hypertrophic cardiomyopathy 4 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000599760 SCV000733048 likely benign Familial hypertrophic cardiomyopathy 4 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000599760 SCV000743559 benign Familial hypertrophic cardiomyopathy 4 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV000205961 SCV000262481 benign Hypertrophic cardiomyopathy 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035415 SCV000059063 likely benign not specified 2016-08-10 criteria provided, single submitter clinical testing p.Ala536Ala 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 0.2% (136/58522) of European American chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs200224422).
PreventionGenetics RCV000035415 SCV000303186 likely benign not specified criteria provided, single submitter clinical testing

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