ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.211+9C>G (rs2303426)

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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) RCV000030249 SCV000107420 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030249 SCV000052916 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035360 SCV000059008 benign not specified 2012-12-03 criteria provided, single submitter clinical testing 211+9C>G in intron 1 of MSH2: This variant is not expected to have clinical sign ificance because it is not located within the conserved +/- 1, 2 invariant regio n. It has been identified in 36% (3011/8418) of European American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS/; rs23033426). 211+9C>G in intron 1 of MSH2 (rs23033426; allele f requency= 36%, 3011/8418) **
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035360 SCV000110275 benign not specified 2015-05-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035360 SCV000303162 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030249 SCV000430910 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000448740 SCV000537324 benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035360 SCV000592456 benign not specified 2012-09-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035360 SCV000604250 benign not specified 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV000535550 SCV000625350 benign Hereditary nonpolyposis colon cancer 2017-07-10 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000144620 SCV000744264 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144620 SCV000189947 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035360 SCV000257168 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000144620 SCV000734196 benign Lynch syndrome I no assertion criteria provided clinical testing

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