ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3874C>T (p.Arg1292Cys)

gnomAD frequency: 0.00001  dbSNP: rs762841102
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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 RCV001967862 SCV002221706 benign Kabuki syndrome 2024-09-09 criteria provided, single submitter clinical testing

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