ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.9913A>G (p.Ser3305Gly)

gnomAD frequency: 0.00005  dbSNP: rs755854926
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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 RCV001962609 SCV002211966 benign Kabuki syndrome 2024-02-24 criteria provided, single submitter clinical testing

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