ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)

dbSNP: rs1770436260
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197229 SCV001367866 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger) 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP3,PP4.

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