Submissions for variant NM_005619.5(RTN2):c.1143G>A (p.Ala381=)

gnomAD frequency: 0.00572  dbSNP: rs45532933

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000230188	SCV000288955	benign	Spastic paraplegia	2024-01-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000382667	SCV000413616	likely benign	Spastic paraplegia, autosomal dominant	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000600441	SCV000714867	benign	not specified	2017-08-29	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	RCV000600441	SCV001474660	benign	not specified	2020-03-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847960	SCV002104931	benign	Hereditary spastic paraplegia	2021-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003311724	SCV004011078	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	RTN2: BP4, BP7, BS2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000600441	SCV001956905	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600441	SCV001974632	benign	not specified		no assertion criteria provided	clinical testing