ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.654T>C (p.Arg218=)

gnomAD frequency: 0.00001  dbSNP: rs1352108327
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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 RCV000937912 SCV001083706 likely benign Birt-Hogg-Dube syndrome 2024-05-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256621 SCV002530148 likely benign Hereditary cancer-predisposing syndrome 2021-08-10 criteria provided, single submitter curation
Ambry Genetics RCV002256621 SCV005581327 likely benign Hereditary cancer-predisposing syndrome 2024-08-20 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.

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