ClinVar Miner

Submissions for variant NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser)

dbSNP: rs2063620799
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001290732 SCV001736861 pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 2021-04-06 criteria provided, single submitter clinical testing
OMIM RCV001290732 SCV001478869 pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked 2021-02-09 no assertion criteria provided literature only

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