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

gnomAD frequency: 0.00058  dbSNP: rs142934950

Total submissions: 10

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	2024-05-01	criteria provided, single submitter	clinical testing	FLCN: BS1
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989759	SCV001720538	benign	Birt-Hogg-Dube syndrome	2024-11-05	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	2025-03-04	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
PreventionGenetics, part of Exact Sciences	RCV003934886	SCV004751187	likely benign	FLCN-related disorder	2020-06-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).