ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13527G>A (p.Lys4509=)

dbSNP: rs2120416853
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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 RCV002213551 SCV002495039 likely benign Kabuki syndrome 2021-03-20 criteria provided, single submitter clinical testing

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