Submissions for variant NM_004960.4(FUS):c.518_523del

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000650270	SCV000772110	benign	Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4	2024-01-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000989597	SCV001140095	benign	Amyotrophic lateral sclerosis type 6	2019-05-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001579952	SCV001892266	benign	not provided	2020-09-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19251627, 20668259, 20124201, 20544928)
Fulgent Genetics, Fulgent Genetics	RCV000650270	SCV002805980	benign	Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4	2021-09-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001579952	SCV004139226	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FUS: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003918061	SCV004734402	likely benign	FUS-related disorder	2019-04-26	criteria provided, single submitter	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579952	SCV001809153	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702827	SCV001932600	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579952	SCV002038228	likely benign	not provided		no assertion criteria provided	clinical testing