ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2766T>C (p.Phe922=) (rs55859129)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000490569 SCV000107573 benign Lynch syndrome I 2014-10-10 reviewed by expert panel research MAF >1%
Invitae RCV000524398 SCV000153820 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129755 SCV000184562 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000490569 SCV000430937 likely benign Lynch syndrome I 2018-01-13 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.
Color RCV000129755 SCV000685071 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202259 SCV000806036 benign not specified 2017-03-20 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202259 SCV000257183 benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000129755 SCV000788035 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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