ClinVar Miner

Submissions for variant NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) (rs141330687)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175483 SCV000226967 benign not specified 2014-11-09 criteria provided, single submitter clinical testing
Invitae RCV000206768 SCV000261821 benign Charcot-Marie-Tooth disease type 4 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094125 SCV000375066 likely benign Charcot-Marie-Tooth disease, type 4B2 2017-06-30 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438792 SCV000511181 likely benign not provided 2016-10-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000438792 SCV000514466 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000175483 SCV000596939 likely benign not specified 2019-07-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000438792 SCV000843561 benign not provided 2019-08-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000438792 SCV000891952 likely benign not provided 2019-07-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173128 SCV001336204 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001094125 SCV001474487 likely benign Charcot-Marie-Tooth disease, type 4B2 2020-07-30 criteria provided, single submitter clinical testing
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino RCV001293356 SCV001481802 likely pathogenic Toe walking 2019-05-20 criteria provided, single submitter clinical testing We conducted a clinical examination of patients about toe walking. The SBF2:c.2323G>A was detected in 5 patients. We also examined a control group of children without toe walking (100 children). In this group this variant could not be identified.
Clinical Genetics,Academic Medical Center RCV000438792 SCV001920195 likely benign not provided no assertion criteria provided clinical testing

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