ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-10T>C (rs17224360)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030235 SCV000107039 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030235 SCV000052902 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179738 SCV000232034 benign not specified 2014-12-03 criteria provided, single submitter clinical testing
Invitae RCV000524329 SCV000262456 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000210766 SCV000267050 benign Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000179738 SCV000303155 benign not specified criteria provided, single submitter clinical testing
Color RCV000210766 SCV000537358 benign Hereditary cancer-predisposing syndrome 2014-12-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000179738 SCV000592488 benign not specified 2013-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000179738 SCV000604251 benign not specified 2018-07-22 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000602995 SCV000744273 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000602995 SCV000745637 benign Lynch syndrome I 2015-10-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000602995 SCV001302370 likely benign Lynch syndrome I 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000179738 SCV000257121 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000602995 SCV000734199 benign Lynch syndrome I no assertion criteria provided clinical testing

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