ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2535T>C (p.Ile845=)

dbSNP: rs2114237619
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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 RCV001405364 SCV001607282 likely benign Peroxisome biogenesis disorder 2023-11-03 criteria provided, single submitter clinical testing

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