ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) (rs763116781)

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Total submissions: 2
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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 Early infantile epileptic encephalopathy 10; Ataxia-oculomotor apraxia 4 2018-10-31 criteria provided, single submitter clinical testing

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