ClinVar Miner

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

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Total submissions: 9
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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 2019-12-31 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 RCV000175483 SCV000514466 likely benign not specified 2017-08-01 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.
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

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