ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.666A>G (p.Ser222=)

gnomAD frequency: 0.00001  dbSNP: rs1806901488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578655 SCV001805917 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger) 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578656 SCV001805918 uncertain significance Peroxisome biogenesis disorder 5B 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001578655 SCV003508758 likely benign Peroxisome biogenesis disorder 5A (Zellweger) 2023-08-30 criteria provided, single submitter clinical testing

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