ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.98T>G (p.Leu33Arg)

gnomAD frequency: 0.00001  dbSNP: rs1643271090
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Total submissions: 1
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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, RCV001090128 SCV001245476 uncertain significance Peroxisome biogenesis disorder 6B no assertion criteria provided clinical testing

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