ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1545C>T (p.Tyr515=)

dbSNP: rs760131892
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000864465 SCV001500216 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV001464822 SCV001668797 likely benign Developmental and epileptic encephalopathy, 12 2023-07-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816963 SCV002066211 uncertain significance not specified 2017-09-05 criteria provided, single submitter clinical testing

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