ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg)

gnomAD frequency: 0.00001  dbSNP: rs587778458
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001838982 SCV002099090 uncertain significance Kabuki syndrome 1 2021-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854636 SCV002160799 benign Kabuki syndrome 2024-04-22 criteria provided, single submitter clinical testing
ITMI RCV000121386 SCV000085570 not provided not specified 2013-09-19 no assertion provided reference population

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