ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.816+20C>T

gnomAD frequency: 0.00059  dbSNP: rs372038893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127481 SCV000171055 benign not specified 2014-02-17 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 RCV002055753 SCV002410475 benign Developmental and epileptic encephalopathy, 12 2024-12-28 criteria provided, single submitter clinical testing

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