ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.627G>A (p.Glu209=)

gnomAD frequency: 0.00043  dbSNP: rs141430704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598146 SCV000704051 likely benign not specified 2016-11-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000970658 SCV001118248 benign Peroxisome biogenesis disorder, complementation group 7 2025-02-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097564 SCV001253854 uncertain significance Peroxisome biogenesis disorder 6A (Zellweger) 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV003409861 SCV004127973 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing PEX10: BP4, BP7

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