ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) (rs34625968)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074947 SCV000108162 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% in African population
Invitae RCV000524193 SCV000153885 benign Hereditary nonpolyposis colorectal neoplasms 2020-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132026 SCV000187085 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
GeneDx RCV001354037 SCV000211365 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28531214, 21153778, 23047549, 22290698)
Color Health, Inc RCV000132026 SCV000537444 likely benign Hereditary cancer-predisposing syndrome 2015-02-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000212691 SCV000805899 benign not specified 2017-08-11 criteria provided, single submitter clinical testing
Mendelics RCV000986742 SCV001135851 likely benign Hereditary nonpolyposis colorectal cancer type 5 2019-05-28 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001354037 SCV000592658 uncertain significance not provided no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000212691 SCV000691942 uncertain significance not specified no assertion criteria provided clinical testing

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