ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3298G>C (p.Asp1100His)

gnomAD frequency: 0.00006  dbSNP: rs745673119
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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 RCV003822231 SCV004618650 benign Kabuki syndrome 2022-11-29 criteria provided, single submitter clinical testing

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