ClinVar Miner

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

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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) RCV000076866 SCV000108360 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Ambry Genetics RCV000129969 SCV000184793 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000252549 SCV000304734 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000076866 SCV000469743 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000129969 SCV000537347 benign Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Invitae RCV000860452 SCV001000511 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000252549 SCV001156614 benign not specified 2018-08-07 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000252549 SCV000691978 benign not specified no assertion criteria provided 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

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