ClinVar Miner

Submissions for variant NM_004565.3(PEX14):c.1032G>T (p.Gly344=)

gnomAD frequency: 0.13336  dbSNP: rs11539794
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153681 SCV000203238 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153681 SCV000310478 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391123 SCV000347031 benign Peroxisome biogenesis disorder 13A (Zellweger) 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000675997 SCV000971704 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001523637 SCV001733384 benign Peroxisome biogenesis disorder, complementation group K 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000391123 SCV002029575 benign Peroxisome biogenesis disorder 13A (Zellweger) 2021-09-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675997 SCV000801729 benign not provided 2015-12-15 no assertion criteria provided clinical testing

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