Submissions for variant NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg)

gnomAD frequency: 0.00521  dbSNP: rs17109261

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174165	SCV000225420	benign	not specified	2014-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079213	SCV000260500	benign	Charcot-Marie-Tooth disease type 4	2025-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000174165	SCV000714808	benign	not specified	2017-02-14	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	RCV000205788	SCV001145604	benign	not provided	2019-06-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000205788	SCV001159443	benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155696	SCV001317146	benign	Charcot-Marie-Tooth disease type 4C	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001155697	SCV001317147	benign	Susceptibility to mononeuropathy of the median nerve, mild	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001173900	SCV001337016	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492732	SCV002803738	likely benign	Charcot-Marie-Tooth disease type 4C; Susceptibility to mononeuropathy of the median nerve, mild	2021-08-16	criteria provided, single submitter	clinical testing