ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.-64G>C

gnomAD frequency: 0.00747  dbSNP: rs79618123
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000335450 SCV000385837 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000373780 SCV000385838 likely benign Atrial septal defect 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000280254 SCV000385839 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000387118 SCV000483460 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292750 SCV000483461 likely benign MYH7-related skeletal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV003320147 SCV000483463 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335349 SCV000483465 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000419566 SCV000534651 benign not specified 2016-12-22 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.

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