ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5000A>T (p.Glu1667Val)

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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 RCV003854104 SCV004696331 likely benign Kabuki syndrome 2023-02-26 criteria provided, single submitter clinical testing

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