Submissions for variant NM_024577.4(SH3TC2):c.2873-18T>C

gnomAD frequency: 0.00154  dbSNP: rs113514936

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000616963	SCV000729988	likely benign	not specified	2017-08-09	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.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172852	SCV001335925	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066742	SCV002356910	benign	Charcot-Marie-Tooth disease type 4	2024-12-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV005231180	SCV005878448	likely benign	not provided	2024-08-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544795	SCV004758392	likely benign	SH3TC2-related disorder	2019-03-26	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).