Submissions for variant NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) (rs146920285)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001082893	SCV000218575	likely benign	Charcot-Marie-Tooth disease type 4	2019-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000237055	SCV000292687	likely benign	not specified	2017-08-18	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.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia	RCV000237055	SCV000297314	uncertain significance	not specified	2015-11-08	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000713265	SCV000339049	uncertain significance	not provided	2016-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713265	SCV000843854	likely benign	not provided	2018-06-14	criteria provided, single submitter	clinical testing
Mendelics	RCV000987610	SCV001136995	benign	Charcot-Marie-Tooth disease, type 4C	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000713265	SCV001154547	uncertain significance	not provided	2020-01-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000237055	SCV001158099	likely benign	not specified	2018-09-16	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000987610	SCV001318730	uncertain significance	Charcot-Marie-Tooth disease, type 4C	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina	RCV001157181	SCV001318731	uncertain significance	Mononeuropathy of the median nerve, mild	2018-02-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV000789576	SCV001335908	likely benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Inherited Neuropathy Consortium	RCV000789576	SCV000928932	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only