ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2193G>A (p.Leu731=)

dbSNP: rs1769805711
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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 RCV001423014 SCV001625583 likely benign Peroxisome biogenesis disorder 2023-04-13 criteria provided, single submitter clinical testing

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