ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.890T>C (p.Leu297Pro) (rs724160000)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675117 SCV000800671 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2018-03-08 criteria provided, single submitter clinical testing
OMIM RCV000149810 SCV000196634 pathogenic Peroxisome biogenesis disorder 6B 2009-02-01 no assertion criteria provided literature only

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