ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.474C>T (p.Asn158=) (rs4647256)

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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) RCV000490566 SCV000106739 benign Lynch syndrome I 2014-10-10 reviewed by expert panel research MAF >1%
Ambry Genetics RCV000130926 SCV000185838 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153504 SCV000203024 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Invitae RCV000524303 SCV000262393 benign Hereditary nonpolyposis colon cancer 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153504 SCV000303150 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000075732 SCV000443326 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000153504 SCV000592360 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
Color RCV000130926 SCV000684834 benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000153504 SCV000257102 benign not specified no assertion criteria provided clinical testing

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