ClinVar Miner

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

dbSNP: 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 Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 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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