ClinVar Miner

Submissions for variant NM_000318.3(PEX2):c.-17-2A>G

gnomAD frequency: 0.00001  dbSNP: rs1289852067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672992 SCV000798154 uncertain significance Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B 2018-02-28 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001251181 SCV001426537 likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger) criteria provided, single submitter clinical testing
Baylor Genetics RCV001251181 SCV004201462 pathogenic Peroxisome biogenesis disorder 5A (Zellweger) 2023-10-31 criteria provided, single submitter clinical testing

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