Submissions for variant NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)

gnomAD frequency: 0.00683  dbSNP: rs150895887

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175899	SCV000227470	benign	not specified	2015-02-04	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224312	SCV000281378	likely benign	not provided	2015-09-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001085384	SCV001122568	benign	Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001137939	SCV001297938	likely benign	Peroxisome biogenesis disorder 7A (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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Elsea Laboratory, Baylor College of Medicine	RCV001085384	SCV001424193	uncertain significance	Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B	2020-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000224312	SCV002575326	likely benign	not provided	2019-08-23	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.