ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2272C>T (p.Leu758=) (rs56371757)

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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 RCV000130484 SCV000185353 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000130484 SCV000685274 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035320 SCV000203037 benign not specified 2014-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000074728 SCV000430971 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074728 SCV000107937 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524138 SCV000153935 benign Hereditary nonpolyposis colon cancer 2018-01-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035320 SCV000058968 likely benign not specified 2008-07-10 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035320 SCV000257222 benign not specified no assertion criteria provided research
PreventionGenetics RCV000035320 SCV000302871 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130484 SCV000788046 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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