ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1149C>T (p.Leu383=)

gnomAD frequency: 0.00028  dbSNP: rs150752548
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723579 SCV000114662 uncertain significance not provided 2013-02-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163531 SCV000214089 likely benign Hereditary cancer-predisposing syndrome 2015-07-03 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079714 SCV000291424 benign Birt-Hogg-Dube syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000082620 SCV000717702 likely benign not specified 2018-01-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000723579 SCV000892516 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082620 SCV002066251 benign not specified 2021-06-17 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163531 SCV002530097 benign Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000082620 SCV005090298 likely benign not specified 2024-07-31 criteria provided, single submitter clinical testing

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