ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.763C>T (p.Leu255=)

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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 RCV003529836 SCV004332196 likely benign Peroxisome biogenesis disorder 2023-10-12 criteria provided, single submitter clinical testing

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