ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.-24GGC[8]

dbSNP: rs71366293
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119104 SCV000153815 benign Gorlin syndrome 2016-03-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000325518 SCV000339816 benign not specified 2016-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492332 SCV000581000 benign Hereditary cancer-predisposing syndrome 2020-07-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.
GeneDx RCV000590632 SCV001942748 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000325518 SCV002773923 benign not specified 2021-05-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549590 SCV004788695 benign PTCH1-related disorder 2023-12-13 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV000590632 SCV001905973 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000590632 SCV001956528 likely benign not provided no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590632 SCV002047135 benign not provided 2021-05-24 flagged submission clinical testing

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