ClinVar Miner

Submissions for variant NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003154318 SCV003842316 likely pathogenic Epilepsy, early-onset, vitamin B6-dependent 2023-03-22 criteria provided, single submitter clinical testing

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