ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1683+20C>T

gnomAD frequency: 0.00046  dbSNP: rs557391484
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001611438 SCV001835914 benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072368 SCV002403684 benign Kabuki syndrome 2 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501970 SCV002796793 likely benign Kabuki syndrome 1; Kabuki syndrome 2 2021-10-21 criteria provided, single submitter clinical testing

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