ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.2512A>C (p.Lys838Gln)

dbSNP: rs2074256645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001289472 SCV001477306 likely pathogenic Distal arthrogryposis 2020-10-27 criteria provided, single submitter clinical testing

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