ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.624C>T (p.Ala208=)

gnomAD frequency: 0.00001  dbSNP: rs571119317
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194086 SCV000248544 uncertain significance not specified 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000871225 SCV000518886 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Invitae RCV001510065 SCV001717002 benign Developmental and epileptic encephalopathy, 12 2023-12-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871225 SCV004140477 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PNKP: BP4, BP7

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