ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.655A>G (p.Ile219Val) (rs1799977)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030230 SCV000106807 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035355 SCV000059003 benign not specified 2011-08-23 criteria provided, single submitter clinical testing This variant is classified as benign based on its high frequency in the general population (rs1799977, MAF >3%).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035355 SCV000110268 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000131385 SCV000186361 benign Hereditary cancer-predisposing syndrome 2014-11-13 criteria provided, single submitter clinical testing
Color RCV000131385 SCV000292085 benign Hereditary cancer-predisposing syndrome 2014-11-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035355 SCV000303152 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030230 SCV000443330 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000035355 SCV000592366 benign not specified 2012-04-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000035355 SCV000604227 benign not specified 2018-07-02 criteria provided, single submitter clinical testing
IntelligeneCG RCV000144603 SCV000611716 benign Lynch syndrome I 2017-08-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000614686 SCV000781752 benign Lynch syndrome II 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000034548 SCV000999981 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034548 SCV000043321 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030230 SCV000052897 benign Lynch syndrome 2011-11-15 no assertion criteria provided clinical testing
ITMI RCV000035355 SCV000085536 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144603 SCV000189930 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000035355 SCV000257110 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000614686 SCV000734264 benign Lynch syndrome II no assertion criteria provided clinical testing

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