ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.690A>C (p.Leu230=)

gnomAD frequency: 0.00001  dbSNP: rs373977390
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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 RCV001461283 SCV001665178 likely benign Birt-Hogg-Dube syndrome 2025-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372537 SCV002668172 likely benign Hereditary cancer-predisposing syndrome 2021-08-11 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.
Myriad Genetics, Inc. RCV004792577 SCV005407646 likely benign Birt-Hogg-Dube syndrome 1 2024-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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