ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.-9+23T>C

gnomAD frequency: 0.51695  dbSNP: rs2239578
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658798 SCV001873910 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779292 SCV002016162 benign Dilated cardiomyopathy 1S 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003320252 SCV002016163 benign Myosin storage myopathy 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779296 SCV002016164 benign Myopathy, myosin storage, autosomal recessive 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003320252 SCV002016165 benign Myosin storage myopathy 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001779295 SCV002016166 benign MYH7-related skeletal myopathy 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658798 SCV005289373 benign not provided criteria provided, single submitter not provided

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