ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7157G>A (p.Arg2386Gln)

gnomAD frequency: 0.00001  dbSNP: rs763262491
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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 RCV001069957 SCV001235162 likely benign Kabuki syndrome 2023-12-16 criteria provided, single submitter clinical testing

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