ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1278C>T (p.Ile426=)

gnomAD frequency: 0.00016  dbSNP: rs41459448
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164080 SCV000214690 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000476954 SCV000560346 likely benign Birt-Hogg-Dube syndrome 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001093242 SCV000723180 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27734835, 21937013, 19116017, 19562744)
CeGaT Center for Human Genetics Tuebingen RCV001093242 SCV001250128 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FLCN: BP4, BP7
Sema4, Sema4 RCV000164080 SCV002530106 likely benign Hereditary cancer-predisposing syndrome 2021-08-24 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267907 SCV002551330 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492653 SCV002802580 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-04-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001093242 SCV004562361 benign not provided 2023-08-23 criteria provided, single submitter clinical testing

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