ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.3062del (p.Ser1020_Leu1021insTer)

dbSNP: rs2142398204
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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 RCV001375878 SCV001572822 likely pathogenic MYH3-Related Disorders 2021-01-01 no assertion criteria provided research

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