ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1212C>T (p.Arg404=)

gnomAD frequency: 0.00001  dbSNP: rs775042023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200242 SCV001371147 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560272 SCV002970939 likely benign Developmental and epileptic encephalopathy, 12 2022-08-22 criteria provided, single submitter clinical testing

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