ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.231C>A (p.Ser77Arg)

dbSNP: rs1770437263
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001175101 SCV001334231 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B no assertion criteria provided clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001175106 SCV001337681 uncertain significance Peroxisome biogenesis disorder 4A (Zellweger) no assertion criteria provided clinical testing

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