ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys)

gnomAD frequency: 0.00007  dbSNP: rs201796530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496616 SCV001701317 likely benign Kabuki syndrome 2023-10-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000121444 SCV002067238 uncertain significance not specified 2018-07-14 criteria provided, single submitter clinical testing
ITMI RCV000121444 SCV000085638 not provided not specified 2013-09-19 no assertion provided reference population

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