ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.349-76T>C

gnomAD frequency: 0.52372  dbSNP: rs71360285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989754 SCV001140301 benign Freeman-Sheldon syndrome 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001720272 SCV001949205 benign not provided 2019-09-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001720272 SCV005254297 benign not provided criteria provided, single submitter not provided

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