ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.4651-12A>C (rs193922653)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000037512 SCV000515344 benign not specified 2017-01-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000314452 SCV000385576 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369201 SCV000385577 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274631 SCV000385578 uncertain significance Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030308 SCV000052975 benign Cardiomyopathy 2015-05-26 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037512 SCV000061170 benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.4651-12A>C in intron 32 of MYH6: This variant is not expected to have clinical significance because it has been identified in 1.4% (139/10018) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g/, dbSNP rs193922653).

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