ClinVar Miner

Submissions for variant NM_001198950.3(MYO16):c.1477C>T (p.Pro493Ser)

dbSNP: rs774060871
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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 RCV000767344 SCV000897914 likely pathogenic MYO16-associated developmental delay 2018-09-07 criteria provided, single submitter research

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