Submissions for variant NM_001370298.3(FGD4):c.1954-8T>C

gnomAD frequency: 0.01466  dbSNP: rs115061722

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000210493	SCV000266795	benign	Charcot-Marie-Tooth disease type 4	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094177	SCV000378188	likely benign	Charcot-Marie-Tooth disease type 4H	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000426397	SCV000515751	benign	not specified	2015-06-18	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.
Molecular Genetics Laboratory, London Health Sciences Centre	RCV001172948	SCV001336023	benign	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000426397	SCV001477244	benign	not specified	2020-03-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001094177	SCV002048775	benign	Charcot-Marie-Tooth disease type 4H	2023-09-20	criteria provided, single submitter	clinical testing