ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.1002+1G>A

gnomAD frequency: 0.00002  dbSNP: rs150951216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV001375881 SCV001572825 likely pathogenic MYH3-related disorder 2021-01-01 no assertion criteria provided research

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