Submissions for variant NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)

gnomAD frequency: 0.00376  dbSNP: rs113268723

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245920	SCV000303476	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245920	SCV000331403	benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000433096	SCV000511309	likely benign	not provided	2016-06-29	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
GeneDx	RCV000433096	SCV000517123	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000433096	SCV000604618	benign	not provided	2023-01-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000245920	SCV000614438	likely benign	not specified	2016-11-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000755647	SCV000883046	likely benign	Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080687	SCV001106984	benign	Peroxisome biogenesis disorder 9B	2025-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000433096	SCV001154892	benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	PEX7: BS1, BS2
Illumina Laboratory Services, Illumina	RCV001080687	SCV001319006	likely benign	Peroxisome biogenesis disorder 9B	2018-01-12	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.
Illumina Laboratory Services, Illumina	RCV001157438	SCV001319007	likely benign	Rhizomelic chondrodysplasia punctata type 1	2018-01-12	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.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277607	SCV002566966	likely benign	Connective tissue disorder	2022-01-25	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000245920	SCV001917743	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000433096	SCV001971816	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000433096	SCV002036295	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001833264	SCV002077242	likely benign	Rhizomelic chondrodysplasia punctata	2017-05-10	no assertion criteria provided	clinical testing