Submissions for variant NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)

gnomAD frequency: 0.00011  dbSNP: rs191969418

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000591798	SCV000706975	uncertain significance	not provided	2017-04-04	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765867	SCV000897263	uncertain significance	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	RCV001081418	SCV001089499	likely benign	Peroxisome biogenesis disorder 9B	2024-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001081418	SCV001313158	benign	Peroxisome biogenesis disorder 9B	2017-04-27	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.
Illumina Laboratory Services, Illumina	RCV001151970	SCV001313159	likely benign	Rhizomelic chondrodysplasia punctata type 1	2017-04-27	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc.	RCV001151970	SCV001459140	likely benign	Rhizomelic chondrodysplasia punctata type 1	2020-06-02	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004732960	SCV005361507	likely benign	PEX7-related disorder	2024-06-10	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).