ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.936+13dup

dbSNP: rs3739200
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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 RCV000188412 SCV000248547 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV001668349 SCV001884484 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054215 SCV002394732 benign Developmental and epileptic encephalopathy, 12 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000188412 SCV000242024 benign not specified 2015-03-19 flagged submission clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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