ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.3342+10T>C (rs552662475)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220884 SCV000724718 likely benign not specified 2017-11-17 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 RCV000647078 SCV000768865 likely benign Familial hypertrophic cardiomyopathy 14 2017-09-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220884 SCV000270448 likely benign not specified 2015-03-24 criteria provided, single submitter clinical testing c.3342+10T>C in intron 25 of MYH6: This variant is not expected to have clinical significance because it does not affect the splice consensus sequence. It has been identified in 4/10406 African chromosomes by the Exome Aggregation Consort ium (ExAC,

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