ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.-26G>A

dbSNP: rs727504080
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153677 SCV000203234 uncertain significance not provided 2014-04-15 criteria provided, single submitter clinical testing
Counsyl RCV000666199 SCV000790452 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2017-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000666199 SCV002789175 uncertain significance Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 2021-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516088 SCV003441909 uncertain significance Peroxisome biogenesis disorder 3A (Zellweger) 2021-09-01 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the PEX12 gene. It does not change the encoded amino acid sequence of the PEX12 protein. This variant is present in population databases (rs727504080, ExAC 0.001%). This variant has been observed in individual(s) with Zellweger spectrum disorder (PMID: 26643206). ClinVar contains an entry for this variant (Variation ID: 167450). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Seelig Lab, University of Washington RCV000153677 SCV000897889 not provided not provided no assertion provided in vitro

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