ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1126+9C>T

gnomAD frequency: 0.00004  dbSNP: rs3739202
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127487 SCV000171062 benign not specified 2014-05-21 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.
Genetic Services Laboratory, University of Chicago RCV000147344 SCV000194717 uncertain significance Microcephaly, seizures, and developmental delay 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000648438 SCV000770258 benign Developmental and epileptic encephalopathy, 12 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905214 SCV004722030 benign PNKP-related condition 2021-02-11 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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