ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.23C>T (p.Thr8Met) (rs17217716)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076466 SCV000107495 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV001082308 SCV000166272 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121556 SCV000170341 benign not specified 2014-01-31 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.
Ambry Genetics RCV000130682 SCV000185569 benign Hereditary cancer-predisposing syndrome 2014-09-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144624 SCV000430908 likely benign Lynch syndrome I 2018-03-06 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434381 SCV000511017 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121556 SCV000592449 likely benign not specified 2012-09-21 criteria provided, single submitter clinical testing
Color RCV000130682 SCV000685038 benign Hereditary cancer-predisposing syndrome 2015-03-05 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000144624 SCV000781766 uncertain significance Lynch syndrome I 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121556 SCV000806029 benign not specified 2017-06-15 criteria provided, single submitter clinical testing
Mendelics RCV000144624 SCV001135688 benign Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121556 SCV001156593 benign not specified 2018-09-21 criteria provided, single submitter clinical testing
ITMI RCV000121556 SCV000085750 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144624 SCV000189951 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121556 SCV000691894 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000130682 SCV000788032 likely benign Hereditary cancer-predisposing syndrome 2018-03-02 no assertion criteria provided clinical testing

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