ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3261T>C (p.Tyr1087=)

dbSNP: rs867558265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001665134 SCV001874806 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073040 SCV002481390 likely benign Kabuki syndrome 2 2022-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001665134 SCV005209298 likely benign not provided criteria provided, single submitter not provided

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