ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11226G>A (p.Gln3742=)

gnomAD frequency: 0.00001  dbSNP: rs776199475
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002214792 SCV002368687 likely benign Kabuki syndrome 2021-07-06 criteria provided, single submitter clinical testing

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