ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-8T>A (rs193922367)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000144607 SCV000106087 benign Lynch syndrome I 2016-04-20 reviewed by expert panel research Reported 32 times by French labs. Splicing reporter minigene pCAS: normal splicing. Linkage disequilibrium with MLH1: c.1558+14G>A. Found in co-occurrence with MSH2 : c.1387_1661del (loss of exons 9 and 10).
Invitae RCV000524220 SCV000153834 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000035354 SCV000170293 benign not specified 2014-08-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000131799 SCV000186850 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035354 SCV000592395 benign not specified 2013-09-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035354 SCV000705547 benign not specified 2017-01-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000609227 SCV000781754 uncertain significance Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Mendelics RCV000609227 SCV001136398 likely benign Lynch syndrome II 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000035354 SCV001156600 benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000609227 SCV001307793 benign Lynch syndrome II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Color RCV000131799 SCV001341845 benign Hereditary cancer-predisposing syndrome 2015-02-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030212 SCV000052879 benign Lynch syndrome 2011-12-22 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035354 SCV000059002 benign not specified 2008-10-29 no assertion criteria provided clinical testing
Pathway Genomics RCV000144607 SCV000189934 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035354 SCV000257043 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000609227 SCV000734266 benign Lynch syndrome II no assertion criteria provided clinical testing
True Health Diagnostics RCV000131799 SCV000788015 likely benign Hereditary cancer-predisposing syndrome 2017-09-28 no assertion criteria provided clinical testing

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