ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1164C>T (p.His388=) (rs55708305)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130493 SCV000185362 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000130493 SCV000685173 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035317 SCV000203035 benign not specified 2014-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000074639 SCV000430958 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074639 SCV000107839 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1% & Multifactorial likelihood analysis posterior probability <0.001
Invitae RCV000524102 SCV000153934 benign Hereditary nonpolyposis colon cancer 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035317 SCV000058965 likely benign not specified 2008-07-10 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035317 SCV000257206 benign not specified no assertion criteria provided research
PreventionGenetics RCV000035317 SCV000302866 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130493 SCV000788041 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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