ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6905C>G (p.Pro2302Arg)

dbSNP: rs1943481947
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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 RCV001418384 SCV001620610 likely benign Kabuki syndrome 2019-12-07 criteria provided, single submitter clinical testing

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