ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1062+6C>T (rs8065832)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082618 SCV000114660 benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082618 SCV000198124 benign not specified 2015-08-06 criteria provided, single submitter clinical testing c.1062+6C>T in intron 9 of FLCN: This variant is not expected to have clinical s ignificance because it has been identified in 65% (4313/6562) of Finnish chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs8065832).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239642 SCV000298068 benign Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082618 SCV000316052 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000239642 SCV000401000 benign Multiple fibrofolliculomas 2018-03-06 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 Clinical Services Laboratory,Illumina RCV000359369 SCV000401001 benign Pneumothorax, primary spontaneous 2018-03-06 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.
Integrated Genetics/Laboratory Corporation of America RCV000586435 SCV000699931 benign not provided 2016-05-04 criteria provided, single submitter clinical testing Variant summary: c.1062+6C>T in FLCN gene is an intronic change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at frequency of 50.2% (60270/119978 chrs tested), including numerous homozygous occurrences. The observed frequency greatly exceeds the maximum expected allele frequency for a pathogenic variant of 0.0003%, suggesting that it is a benign polymorphism. The variant of interest has been reported as Benign/Polymorphism by reputable database/clinical laboratory and published reports (Cho, 2008; Houweling, 2011). Taking together, based on the prevalence of this variant in general population the variant was classified as Benign.

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