Submissions for variant NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=)

gnomAD frequency: 0.00024  dbSNP: rs373990000

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649934	SCV000771770	likely benign	Charcot-Marie-Tooth disease axonal type 2P	2023-11-13	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172644	SCV001335707	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000649934	SCV002047853	likely benign	Charcot-Marie-Tooth disease axonal type 2P	2021-02-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424515	SCV002729177	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV002469233	SCV002765758	likely benign	not provided	2019-12-19	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences	RCV003965382	SCV004785748	likely benign	LRSAM1-related condition	2023-07-27	criteria provided, single submitter	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).