ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14071G>A (p.Val4691Ile)

gnomAD frequency: 0.00002  dbSNP: rs762462902
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561423 SCV001784027 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568408 SCV003509392 benign Kabuki syndrome 2024-02-05 criteria provided, single submitter clinical testing

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