Submissions for variant NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val)

gnomAD frequency: 0.25663  dbSNP: rs10149146

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421443	SCV000519721	benign	not specified	2016-03-01	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001273269	SCV001730410	benign	Hereditary spastic paraplegia 49	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001273269	SCV001755028	benign	Hereditary spastic paraplegia 49	2021-07-10	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000421443	SCV002050719	likely benign	not specified	2021-12-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703938	SCV005211474	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273269	SCV001456116	benign	Hereditary spastic paraplegia 49	2020-09-16	no assertion criteria provided	clinical testing