Submissions for variant NM_004960.4(FUS):c.*41G>A

gnomAD frequency: 0.00551  dbSNP: rs80301724

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000989600	SCV000396641	likely benign	Amyotrophic lateral sclerosis type 6	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455731	SCV000539208	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency
Invitae	RCV000537567	SCV000652432	benign	Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4	2024-01-15	criteria provided, single submitter	clinical testing
Mendelics	RCV000989600	SCV001140098	benign	Amyotrophic lateral sclerosis type 6	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326407	SCV004033484	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FUS: BS1, BS2