ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7202G>A (p.Arg2401His)

gnomAD frequency: 0.00009  dbSNP: rs375115132
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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 RCV000268076 SCV000830114 likely benign Kabuki syndrome 2024-01-08 criteria provided, single submitter clinical testing

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