ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) (rs17420802)

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Total submissions: 18
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755368 SCV000604892 benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130364 SCV000185216 benign Hereditary cancer-predisposing syndrome 2014-07-23 criteria provided, single submitter clinical testing
Counsyl RCV000615735 SCV000785258 benign Hereditary nonpolyposis colorectal cancer type 4 2017-06-13 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000615735 SCV000745184 benign Hereditary nonpolyposis colorectal cancer type 4 2017-05-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000079108 SCV000592950 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615735 SCV000734559 benign Hereditary nonpolyposis colorectal cancer type 4 no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030368 SCV000296935 uncertain significance Lynch syndrome 2015-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079108 SCV000110977 benign not specified 2018-03-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000755648 SCV000883047 likely benign Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000079108 SCV000171039 benign not specified 2014-01-16 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,VU University Medical Center Amsterdam RCV000615735 SCV000745835 benign Hereditary nonpolyposis colorectal cancer type 4 2016-01-22 criteria provided, single submitter clinical testing
ITMI RCV000079108 SCV000086053 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000030368 SCV000053035 benign Lynch syndrome 2013-02-18 no assertion criteria provided clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000030368 SCV000108343 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
Invitae RCV000524464 SCV000252717 benign Hereditary nonpolyposis colon cancer 2017-10-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079108 SCV000257310 benign not specified no assertion criteria provided clinical testing
Pathway Genomics RCV000144644 SCV000189971 benign Lynch syndrome I 2014-07-24 no assertion criteria provided clinical testing
PreventionGenetics RCV000079108 SCV000304729 benign not specified criteria provided, single submitter clinical testing

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