ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) (rs2020910)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030267 SCV000108048 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030267 SCV000052934 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078313 SCV000110156 benign not specified 2013-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162391 SCV000212711 benign Hereditary cancer-predisposing syndrome 2019-05-07 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
PreventionGenetics,PreventionGenetics RCV000078313 SCV000302877 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625243 SCV000430975 benign Hereditary nonpolyposis colorectal cancer type 5 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color RCV000162391 SCV000537360 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
Invitae RCV000756348 SCV000561540 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078313 SCV000592634 benign not specified 2012-05-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625243 SCV000744298 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000078313 SCV000884134 benign not specified 2018-09-09 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078313 SCV000257249 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000162391 SCV000788049 likely benign Hereditary cancer-predisposing syndrome 2018-02-15 no assertion criteria provided clinical testing

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