ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5411C>T (p.Pro1804Leu)

dbSNP: rs2120571965
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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 RCV002128536 SCV002460461 likely benign Kabuki syndrome 2023-07-29 criteria provided, single submitter clinical testing

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