ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.1468A>G (p.Thr490Ala)

dbSNP: rs1428483797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001568643 SCV001792551 uncertain significance not provided 2019-07-18 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, supports that this variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV005040323 SCV005682936 uncertain significance Kabuki syndrome 2 2024-03-21 criteria provided, single submitter clinical testing

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