ClinVar Miner

Submissions for variant NM_006214.4(PHYH):c.336del (p.Pro113fs)

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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 Human Genetics, University of Leipzig Medical Center RCV004759612 SCV005368335 pathogenic Phytanic acid storage disease 2024-09-17 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2,PP4

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