ClinVar Miner

Submissions for variant NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)

dbSNP: rs72550890
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000273657 SCV000396634 likely benign Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000518264 SCV000613357 benign not specified 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000873649 SCV001015682 benign Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528222 SCV004139227 benign not provided 2022-07-01 criteria provided, single submitter clinical testing FUS: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003910212 SCV004726879 benign FUS-related condition 2022-05-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528222 SCV001739591 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001528222 SCV001807606 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000518264 SCV001973578 benign not specified no assertion criteria provided clinical testing

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