ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1440TGC[2] (p.Ala483del)

dbSNP: rs1554127389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674507 SCV000799854 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2018-05-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002066984 SCV002497410 likely pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing PEX6: PM2, PM4, PP4:Moderate, PM3:Supporting, PS4:Supporting

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