ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) (rs376041792)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488261 SCV000574881 uncertain significance not provided 2016-11-30 criteria provided, single submitter clinical testing
Color RCV000771847 SCV000904561 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625309 SCV000744849 likely benign Familial hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000470790 SCV000558144 likely benign Hypertrophic cardiomyopathy 2018-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035412 SCV000059060 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing p.Ala522Ala 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 23/66374 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs376041792).

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