ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10482G>A (p.Pro3494=)

gnomAD frequency: 0.00001  dbSNP: rs777636844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422286 SCV000522964 likely benign not specified 2015-12-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062540 SCV002397759 likely benign Kabuki syndrome 2022-09-14 criteria provided, single submitter clinical testing

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