ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) (rs1805318)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129319 SCV000184082 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034622 SCV000043421 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000129319 SCV000537366 benign Hereditary cancer-predisposing syndrome 2014-11-21 criteria provided, single submitter clinical testing
Counsyl RCV000412079 SCV000488727 benign Hereditary nonpolyposis colorectal cancer type 4 2016-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121842 SCV000225236 benign not specified 2014-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000121842 SCV000171034 benign not specified 2013-11-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000412079 SCV000743778 likely benign Hereditary nonpolyposis colorectal cancer type 4 2016-03-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000412079 SCV000745838 benign Hereditary nonpolyposis colorectal cancer type 4 2016-06-20 no assertion criteria provided clinical testing
ITMI RCV000121842 SCV000086040 not provided not specified 2013-09-19 no assertion provided reference population
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000144655 SCV000108314 benign Lynch syndrome I 2014-10-10 reviewed by expert panel research MAF >1%
Invitae RCV000076827 SCV000153971 benign Hereditary nonpolyposis colon cancer 2018-01-16 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000121842 SCV000691966 likely benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144655 SCV000189982 likely benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000121842 SCV000304724 benign not specified criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129319 SCV000788110 benign Hereditary cancer-predisposing syndrome 2018-01-12 no assertion criteria provided clinical testing
Vantari Genetics RCV000129319 SCV000267072 benign Hereditary cancer-predisposing syndrome 2016-02-04 criteria provided, single submitter clinical testing

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