ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3216G>A (p.Glu1072=)

gnomAD frequency: 0.00001  dbSNP: rs1414046858
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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 RCV002116567 SCV002443533 likely benign Kabuki syndrome 2021-01-27 criteria provided, single submitter clinical testing

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