ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)

gnomAD frequency: 0.00001  dbSNP: rs763116781
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678825 SCV000805011 uncertain significance Pyridoxine-dependent epilepsy 2017-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765461 SCV000896752 uncertain significance Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 2018-10-31 criteria provided, single submitter clinical testing
New York Genome Center RCV001839016 SCV002099172 uncertain significance Microcephaly, seizures, and developmental delay 2021-05-14 criteria provided, single submitter clinical testing

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