ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=)

gnomAD frequency: 0.00085  dbSNP: rs146488512
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000253728 SCV000309463 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000640503 SCV000762095 benign Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001711810 SCV001945971 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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