ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3095-6A>C

dbSNP: rs2148117604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001578179 SCV001805718 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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.; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002072277 SCV002413374 likely benign Kabuki syndrome 2 2024-02-24 criteria provided, single submitter clinical testing

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