ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.373C>T (p.Arg125Ter) (rs61750434)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670577 SCV000795446 likely pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-11-15 criteria provided, single submitter clinical testing
OMIM RCV000007174 SCV000027370 pathogenic Peroxisome biogenesis disorder 6B 1998-08-01 no assertion criteria provided literature only

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