ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1668-19A>G (rs9876116)

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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) RCV000030215 SCV000106295 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030215 SCV000052882 benign Lynch syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078417 SCV000110263 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078417 SCV000303146 benign not specified criteria provided, single submitter clinical testing
Color RCV000447202 SCV000537326 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078417 SCV000592417 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078417 SCV000604228 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078417 SCV000257057 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608854 SCV000734269 benign Lynch syndrome II no assertion criteria provided clinical testing

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