ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1047C>T (p.Leu349=)

gnomAD frequency: 0.00001  dbSNP: rs1460704611
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970629 SCV001118219 likely benign Birt-Hogg-Dube syndrome 2024-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017071 SCV001178095 likely benign Hereditary cancer-predisposing syndrome 2018-09-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800906 SCV002046977 likely benign not specified 2021-05-20 criteria provided, single submitter clinical testing

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