ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1548C>T (p.Ser516=)

dbSNP: rs2114244957
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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 RCV002198035 SCV002353135 likely benign Peroxisome biogenesis disorder 2024-12-09 criteria provided, single submitter clinical testing

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