ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11325C>T (p.Gly3775=)

gnomAD frequency: 0.00001  dbSNP: rs758530825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558729 SCV001780734 likely benign not provided 2020-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570720 SCV003273876 likely benign Kabuki syndrome 2022-11-22 criteria provided, single submitter clinical testing

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