ClinVar Miner

Submissions for variant NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) (rs11557600)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000624935 SCV000605342 likely benign Transcolabamin II deficiency 2019-04-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585117 SCV000693081 likely benign not provided 2017-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624935 SCV000743135 likely benign Transcolabamin II deficiency 2017-06-02 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624935 SCV000744145 likely benign Transcolabamin II deficiency 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000624935 SCV000756653 benign Transcolabamin II deficiency 2020-12-07 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000507154 SCV000864382 benign not specified 2017-08-15 criteria provided, single submitter clinical testing BS1, BS2, BP1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, was seen in a healthy adult where full penetrance of the disorder is expected at an early age, is a missense alteration in a gene for which primarily truncating variants are known to cause disease, and is predicted to be tolerated by multiple functional prediction tools.
Illumina Clinical Services Laboratory,Illumina RCV000624935 SCV001309418 benign Transcolabamin II deficiency 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000585117 SCV001797707 likely benign not provided no assertion criteria provided clinical testing

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