ClinVar Miner

Submissions for variant NM_001291415.2(KDM6A):c.3892+22A>T

gnomAD frequency: 0.00013  dbSNP: rs200109678
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592046 SCV001822260 likely benign not provided 2019-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001592046 SCV005209303 likely benign not provided criteria provided, single submitter not provided

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