ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.949C>T (p.Leu317Phe) (rs61752112)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675048 SCV000800484 uncertain significance Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 2018-01-13 criteria provided, single submitter clinical testing
OMIM RCV000008221 SCV000028428 pathogenic Peroxisomal biogenesis disorder 3b 2004-06-08 no assertion criteria provided literature only

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