ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) (rs200168437)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228569 SCV000291450 likely benign Multiple fibrofolliculomas 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341795 SCV000401015 uncertain significance Pneumothorax, primary spontaneous 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000228569 SCV000401016 benign Multiple fibrofolliculomas 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.
GeneDx RCV001579897 SCV000530066 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics RCV000569608 SCV000673420 benign Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
ITMI RCV000121103 SCV000085271 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579897 SCV001808919 likely benign not provided no assertion criteria provided clinical testing

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