ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr)

gnomAD frequency: 0.00002  dbSNP: rs751146386
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756838 SCV001995066 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882898 SCV002270289 likely benign Kabuki syndrome 2 2023-08-30 criteria provided, single submitter clinical testing

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