ClinVar Miner

Submissions for variant NM_021140.3(KDM6A):c.88G>A (p.Ala30Thr) (rs6529)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224451 SCV000281367 benign not provided 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV001089317 SCV001014779 benign Kabuki syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121284 SCV000085455 not provided not specified 2013-09-19 no assertion provided reference population
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252277 SCV001428029 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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