ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13531-10T>C

gnomAD frequency: 0.00006  dbSNP: rs769029919
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659808 SCV000781665 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV001446522 SCV001649570 likely benign Kabuki syndrome 2022-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000872429 SCV001771513 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
PreventionGenetics, part of Exact Sciences RCV004533448 SCV004747982 likely benign KMT2D-related disorder 2022-05-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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