ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2541C>T (p.Ala847=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005084862 SCV005713346 likely benign Peroxisome biogenesis disorder 2024-06-12 criteria provided, single submitter clinical testing

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