ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) (rs17217772)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757470 SCV000885710 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162398 SCV000212723 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000144619 SCV000781768 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000162398 SCV000685086 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000144619 SCV000744267 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035361 SCV000592462 uncertain significance not specified 2016-07-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035361 SCV000203031 benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000144619 SCV000745632 benign Lynch syndrome I 2016-12-11 criteria provided, single submitter clinical testing
ITMI RCV000035361 SCV000085761 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000030253 SCV000430913 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030253 SCV000052920 benign Lynch syndrome 2011-12-21 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030253 SCV000107622 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524405 SCV000559220 benign Hereditary nonpolyposis colon cancer 2018-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035361 SCV000059009 benign not specified 2011-12-14 criteria provided, single submitter clinical testing The Asn127Ser variant in MSH2 is not expected to have clinical significance beca use it was reported in dbSNP at a frequency ranging from ~1% to ~14% in various populations, and is most commonly observed in individuals with African ancestry (rs17217772).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035361 SCV000257187 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144619 SCV000189946 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000035361 SCV000303165 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162398 SCV000788037 benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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