ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1216-6C>A

gnomAD frequency: 0.00027  dbSNP: rs186008764
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197142 SCV000254452 benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000197142 SCV000481338 benign Gorlin syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000381847 SCV000481339 likely benign Holoprosencephaly 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513717 SCV000610397 likely benign not provided 2017-08-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257498 SCV002526799 likely benign Hereditary cancer-predisposing syndrome 2021-12-20 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478705 SCV002773944 benign not specified 2021-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513717 SCV004160206 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing PTCH1: BP4
PreventionGenetics, part of Exact Sciences RCV004553091 SCV004731214 likely benign PTCH1-related disorder 2024-01-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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