ClinVar Miner

Submissions for variant NM_021140.3(KDM6A):c.1843C>G (p.Leu615Val) (rs112725812)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000121286 SCV000313754 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000878501 SCV001021418 benign Kabuki syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121286 SCV000085457 not provided not specified 2013-09-19 no assertion provided reference population

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