ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1802C>T (p.Pro601Leu)

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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 RCV002695898 SCV002998439 likely benign Kabuki syndrome 2022-05-09 criteria provided, single submitter clinical testing

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