ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1558+14G>A (rs41562513)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030214 SCV000106241 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Integrated Genetics/Laboratory Corporation of America RCV000030214 SCV000052881 benign Lynch syndrome 2011-08-18 criteria provided, single submitter clinical testing Converted during submission to Benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078416 SCV000110262 benign not specified 2013-01-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078416 SCV000303145 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000616483 SCV000443337 benign Lynch syndrome II 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color RCV000449421 SCV000537353 benign Hereditary cancer-predisposing syndrome 2014-11-26 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000078416 SCV000592408 benign not specified 2012-10-22 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000616483 SCV000781758 uncertain significance Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000078416 SCV001156601 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Pathway Genomics RCV000144605 SCV000189932 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000078416 SCV000257053 benign not specified no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000616483 SCV000734267 benign Lynch syndrome II no assertion criteria provided clinical testing

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