ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.12470A>C (p.Gln4157Pro)

dbSNP: rs2120429692
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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 RCV002118034 SCV002407281 benign Kabuki syndrome 2021-02-08 criteria provided, single submitter clinical testing

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