ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) (rs1805321)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030364 SCV000108294 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079103 SCV000110972 benign not specified 2018-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130721 SCV000185608 benign Hereditary cancer-predisposing syndrome 2014-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Color RCV000130721 SCV000292075 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079103 SCV000304717 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030364 SCV000469733 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079103 SCV000592934 benign not specified 2014-12-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000034614 SCV000604897 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
IntelligeneCG RCV000515612 SCV000611718 benign Hereditary nonpolyposis colorectal cancer type 4 2017-08-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000079103 SCV000711441 benign not specified 2017-04-20 criteria provided, single submitter clinical testing p.Pro470Ser in Exon 11 of PMS2: This variant is not expected to have clinical si gnificance because it has been identified in 45% (4560/10152) of Ashkenazi Jewis h chromosomes and 41% (52732/126656) of European chromosomes by the Genome Aggre gation Database (GnomAD, http://gnomad.broadinstitute.org; dbSNP rs1805321).
Counsyl RCV000515612 SCV000785318 benign Hereditary nonpolyposis colorectal cancer type 4 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000034614 SCV001000261 benign not provided 2019-03-06 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034614 SCV000043430 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Integrated Genetics/Laboratory Corporation of America RCV000030364 SCV000053031 benign Lynch syndrome 2011-06-22 no assertion criteria provided clinical testing
ITMI RCV000079103 SCV000086042 not provided not specified 2013-09-19 no assertion provided reference population
Pathway Genomics RCV000144645 SCV000189972 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079103 SCV000691974 benign not specified no assertion criteria provided clinical testing

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