ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.2T>C (p.Met1Thr) (rs724160002)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665679 SCV000789838 pathogenic Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-02-24 criteria provided, single submitter clinical testing
OMIM RCV000149812 SCV000196636 pathogenic Peroxisome biogenesis disorder 6B 2010-08-01 no assertion criteria provided literature only

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