ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1030-5C>T

gnomAD frequency: 0.00002  dbSNP: rs374745816
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723582 SCV000113432 uncertain significance not provided 2013-02-07 criteria provided, single submitter clinical testing
GeneDx RCV000081501 SCV000515717 likely benign not specified 2016-02-09 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 RCV001080963 SCV001004919 likely benign Developmental and epileptic encephalopathy, 12 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723582 SCV004183688 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing PNKP: BP4

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