ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1188+8del

dbSNP: rs763782151
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485716 SCV000565426 likely benign not specified 2017-06-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000648443 SCV000770263 likely benign Developmental and epileptic encephalopathy, 12 2022-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726188 SCV001962214 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing PNKP: BP4

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