ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5753G>A (p.Arg1918His)

dbSNP: rs587778461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001854638 SCV002190596 benign Kabuki syndrome 2022-12-18 criteria provided, single submitter clinical testing
ITMI RCV000121392 SCV000085576 not provided not specified 2013-09-19 no assertion provided reference population

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