ClinVar Miner

Submissions for variant NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC (rs35502531)

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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) RCV000075382 SCV000106375 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability <0.001
Ambry Genetics RCV000130907 SCV000185816 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Invitae RCV001080780 SCV000252646 benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Vantari Genetics RCV000130907 SCV000267048 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000121363 SCV000592423 likely benign not specified 2014-12-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121363 SCV000601370 benign not specified 2017-05-06 criteria provided, single submitter clinical testing
Color RCV000130907 SCV000684775 likely benign Hereditary cancer-predisposing syndrome 2015-07-13 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000018620 SCV000781761 likely benign Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000121363 SCV000805957 benign not specified 2017-01-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034542 SCV000885702 benign not provided 2017-08-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000121363 SCV001158184 benign not specified 2019-06-06 criteria provided, single submitter clinical testing
OMIM RCV000018620 SCV000038903 uncertain significance Lynch syndrome II 2010-08-01 no assertion criteria provided literature only
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034542 SCV000043327 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
ITMI RCV000121363 SCV000085544 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144600 SCV000189927 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121363 SCV000257068 uncertain significance not specified no assertion criteria provided research
True Health Diagnostics RCV000130907 SCV000788018 likely benign Hereditary cancer-predisposing syndrome 2018-01-03 no assertion criteria provided clinical testing

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