Submissions for variant NM_004565.3(PEX14):c.768G>A (p.Val256=)

gnomAD frequency: 0.01070  dbSNP: rs36083022

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244918	SCV000310483	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000380317	SCV000347022	likely benign	Peroxisome biogenesis disorder 13A (Zellweger)	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519849	SCV001728805	benign	Peroxisome biogenesis disorder, complementation group K	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000675995	SCV001826473	likely benign	not provided	2021-10-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675995	SCV005260627	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675995	SCV000801727	likely benign	not provided	2017-10-03	no assertion criteria provided	clinical testing