ClinVar Miner

Submissions for variant NM_000546.5(TP53):c.215C>G (p.Pro72Arg) (rs1042522)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 19
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000034639 SCV000605416 benign not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000132165 SCV000187242 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034639 SCV000043503 no known pathogenicity not provided 2012-07-13 no assertion criteria provided research Converted during submission to Benign.
Color RCV000132165 SCV000292072 benign Hereditary cancer-predisposing syndrome 2014-11-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000144668 SCV000733710 benign Li-Fraumeni syndrome 1 no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079202 SCV000111071 benign not specified 2016-04-05 criteria provided, single submitter clinical testing
ITMI RCV000079202 SCV000086398 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000300782 SCV000407071 benign Li-Fraumeni syndrome 2016-06-14 criteria provided, single submitter clinical testing
IntelligeneCG RCV000144668 SCV000611723 benign Li-Fraumeni syndrome 1 2017-08-18 criteria provided, single submitter clinical testing
Invitae RCV000300782 SCV000629789 benign Li-Fraumeni syndrome 2017-07-10 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000079202 SCV000692094 benign not specified no assertion criteria provided clinical testing
OMIM RCV000013144 SCV000033391 benign CODON 72 POLYMORPHISM 2009-10-01 no assertion criteria provided literature only
Pathway Genomics RCV000144668 SCV000189999 uncertain significance Li-Fraumeni syndrome 1 2014-07-24 no assertion criteria provided clinical testing
PharmGKB RCV000211311 SCV000268126 drug response antineoplastic agents response - Efficacy, Toxicity/ADR 2016-10-17 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000211395 SCV000268127 drug response cisplatin response - Efficacy, Toxicity/ADR 2016-10-17 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000211212 SCV000268128 drug response cyclophosphamide response - Efficacy, Toxicity/ADR 2016-10-17 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000211338 SCV000268129 drug response fluorouracil response - Efficacy, Toxicity/ADR 2016-10-17 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000211157 SCV000268130 drug response paclitaxel response - Efficacy, Toxicity/ADR 2016-10-17 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PreventionGenetics RCV000079202 SCV000305114 benign not specified criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.