ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Payam Genetics Center, General Welfare Department of North Khorasan Province RCV003219140 SCV003915426 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 2023-03-01 criteria provided, single submitter clinical testing

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