ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) (rs2020910)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756348 SCV000884134 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162391 SCV000212711 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000162391 SCV000537360 benign Hereditary cancer-predisposing syndrome 2015-04-08 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625243 SCV000744298 benign Hereditary nonpolyposis colorectal cancer type 5 2015-09-21 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078313 SCV000592634 benign not specified 2012-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078313 SCV000110156 benign not specified 2013-02-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030267 SCV000430975 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030267 SCV000052934 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030267 SCV000108048 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524170 SCV000561540 benign Hereditary nonpolyposis colon cancer 2017-08-17 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078313 SCV000257249 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000078313 SCV000302877 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162391 SCV000788049 likely benign Hereditary cancer-predisposing syndrome 2018-02-15 no assertion criteria provided clinical testing

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