ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1071A>G (p.Leu357=)

gnomAD frequency: 0.00363  dbSNP: rs116318004
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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) RCV000078565 SCV000110421 benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Invitae RCV000974753 SCV001122609 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001160094 SCV001321863 benign Peroxisome biogenesis disorder 4A (Zellweger) 2017-05-16 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV003421973 SCV004161628 benign not provided 2023-05-01 criteria provided, single submitter clinical testing PEX6: BP4, BP7, BS1, BS2

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