ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.871+47G>A

gnomAD frequency: 0.00058  dbSNP: rs142934950
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000121108 SCV000724186 likely benign not specified 2018-02-13 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.
Mendelics RCV000989759 SCV001140311 likely benign Birt-Hogg-Dube syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000034796 SCV001151233 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FLCN: BS1
Invitae RCV000989759 SCV001720538 benign Birt-Hogg-Dube syndrome 2020-12-06 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000034796 SCV002009820 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257375 SCV002530162 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-28 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000121108 SCV002551345 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034796 SCV000043266 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
ITMI RCV000121108 SCV000085276 not provided not specified 2013-09-19 no assertion provided reference population

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