ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.288C>T (p.Ala96=) (rs12532895)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129969 SCV000184793 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Color RCV000129969 SCV000537347 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601388 SCV000734568 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076866 SCV000469743 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076866 SCV000108360 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000252549 SCV000691978 benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000252549 SCV000304734 benign not specified criteria provided, single submitter clinical testing

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