Submissions for variant NM_000288.4(PEX7):c.339+10A>G

gnomAD frequency: 0.00075  dbSNP: rs374668045

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726667	SCV000345914	uncertain significance	not provided	2016-09-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000367539	SCV000722272	likely benign	not specified	2017-08-21	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.
Athena Diagnostics	RCV000726667	SCV001144911	benign	not provided	2018-11-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000367539	SCV001159935	likely benign	not specified	2019-02-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521874	SCV001731293	benign	Peroxisome biogenesis disorder 9B	2024-01-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274737	SCV001459137	uncertain significance	Rhizomelic chondrodysplasia punctata type 1	2020-01-17	no assertion criteria provided	clinical testing