ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.499-7A>C

gnomAD frequency: 0.00001  dbSNP: rs909512959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919643 SCV001064994 likely benign Developmental and epileptic encephalopathy, 12 2022-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502792 SCV002812461 likely benign Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 2021-10-14 criteria provided, single submitter clinical testing

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