ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.151+18T>G

gnomAD frequency: 0.00009  dbSNP: rs55756709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147353 SCV000194728 uncertain significance Microcephaly, seizures, and developmental delay 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000188408 SCV000242020 benign not specified 2014-07-21 criteria provided, single submitter 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.
Invitae RCV002055923 SCV002328025 likely benign Developmental and epileptic encephalopathy, 12 2023-12-19 criteria provided, single submitter clinical testing

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