ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.83C>G (p.Pro28Arg)

gnomAD frequency: 0.00001  dbSNP: rs780588085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000466986 SCV000549473 likely benign Birt-Hogg-Dube syndrome 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017707 SCV001178830 benign Hereditary cancer-predisposing syndrome 2023-09-02 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV003477974 SCV004219733 benign not provided 2022-05-03 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004787731 SCV005404865 likely benign Birt-Hogg-Dube syndrome 1 2024-08-27 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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