ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) (rs4987188)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000121567 SCV000604258 benign not specified 2016-03-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000157760 SCV000212730 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034561 SCV000043338 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000157760 SCV000292106 benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000144615 SCV000744271 benign Lynch syndrome I 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121567 SCV000592482 benign not specified 2012-04-10 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030257 SCV000296897 benign Lynch syndrome 2015-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000121567 SCV000170332 benign not specified 2013-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000144615 SCV000743208 benign Lynch syndrome I 2017-07-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000144615 SCV000745635 benign Lynch syndrome I 2015-08-07 criteria provided, single submitter clinical testing
ITMI RCV000121567 SCV000085762 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000030257 SCV000430919 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030257 SCV000052924 benign Lynch syndrome 2015-04-08 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030257 SCV000107802 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% & Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524425 SCV000153907 benign Hereditary nonpolyposis colon cancer 2017-08-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121567 SCV000257200 benign not specified no assertion criteria provided clinical testing
OMIM RCV000001832 SCV000021988 benign MSH2 POLYMORPHISM 1998-11-01 no assertion criteria provided literature only
Pathway Genomics RCV000144615 SCV000189942 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000121567 SCV000303167 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000157760 SCV000788040 benign Hereditary cancer-predisposing syndrome 2017-12-01 no assertion criteria provided clinical testing
Vantari Genetics RCV000157760 SCV000267049 benign Hereditary cancer-predisposing syndrome 2015-12-18 criteria provided, single submitter clinical testing

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