ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1227C>T (p.Tyr409=)

gnomAD frequency: 0.00001  dbSNP: rs561236067
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721397 SCV000532529 likely benign not provided 2019-01-18 criteria provided, single submitter clinical testing
Invitae RCV000866120 SCV001007176 likely benign Birt-Hogg-Dube syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010435 SCV001170634 likely benign Hereditary cancer-predisposing syndrome 2018-06-12 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268055 SCV002551333 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502573 SCV002807923 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2021-11-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001721397 SCV004218916 benign not provided 2023-05-02 criteria provided, single submitter clinical testing

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