ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1661+12G>A (rs3732183)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035358 SCV000604255 benign not specified 2016-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132147 SCV000187218 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000132147 SCV000537335 benign Hereditary cancer-predisposing syndrome 2015-03-30 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000144614 SCV000744275 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035358 SCV000592512 benign not specified 2012-08-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000144614 SCV000734201 benign Lynch syndrome I no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035358 SCV000110272 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030241 SCV000430926 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030241 SCV000052908 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030241 SCV000107233 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035358 SCV000059006 benign not specified 2012-12-03 criteria provided, single submitter clinical testing 1661+12G>A in intron 10 of MSH2: This variant is not expected to have clinical significance because it is not located within the conserved +/- 1, 2 invariant region. It has been identified in >50% of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; rs3732183). 1661+12G>A in intron 10 of MSH2 (rs3732183; allele frequency= >50%, 2637/4400) **
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035358 SCV000257145 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144614 SCV000189941 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035358 SCV000303158 benign not specified criteria provided, single submitter clinical testing

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