ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.4-1786GGC[8] (rs71366293)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492332 SCV000581000 likely benign Hereditary cancer-predisposing syndrome 2014-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000325518 SCV000339816 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590632 SCV000696384 benign not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: c.-6_-4dupGGC affects mildly conserved nucleotides, resulting in duplication of 3 nucleotides in the 5UTR region. This variant was found in 1014/5008 control chromosomes of 1000Gs project at a frequency of 0.2024, which greatly exceeds the maximal expected frequency of a pathogenic allele (0.000017). The variant has been reported as Benign by several reputable databases/clinical laboratories without evidence to independently evaluate. Taking together, based on the prevalence in the general population, the variant was classified as Benign.
Invitae RCV000119104 SCV000153815 benign Gorlin syndrome 2016-03-31 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.