ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.663C>T (p.Ser221=)

dbSNP: rs1376565938
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503294 SCV000596481 likely benign not specified 2016-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524269 SCV002980764 likely benign Developmental and epileptic encephalopathy, 12 2022-08-16 criteria provided, single submitter clinical testing

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