ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.-24_-22GGC[5] (rs71366293)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173093 SCV000224177 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173093 SCV000303321 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000492592 SCV000580998 likely benign Hereditary cancer-predisposing syndrome 2015-08-15 criteria provided, single submitter clinical testing Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Other data supporting benign classification
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588462 SCV000696386 benign not provided 2016-08-30 criteria provided, single submitter clinical testing Variant summary: c.-9_-4delGGCGGC affects mildly conserved nucleotides, resulting in a deletion of 6 nucleotides in the 5UTR region. This variant was found in 17/5008 control chromosomes of 1000Gs project at a frequency of 0.0034, which greatly exceeds the maximal expected frequency of a pathogenic allele (0.000017). The variant has been reported as Likely Benign by one reputable databases/clinical laboratories without evidence to independently evaluate. Taking together, the variant was classified as Benign.

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