ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.1316G>A (p.Arg439Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005028702 SCV005648011 uncertain significance Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4 2024-04-10 criteria provided, single submitter clinical testing

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