ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1389C>T (p.Tyr463=)

gnomAD frequency: 0.00005  dbSNP: rs137852929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225850 SCV000291432 likely benign Birt-Hogg-Dube syndrome 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001707564 SCV000721573 likely benign not provided 2021-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011326 SCV001171634 likely benign Hereditary cancer-predisposing syndrome 2015-01-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000225850 SCV004015740 likely benign Birt-Hogg-Dube syndrome 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001707564 SCV004218930 benign not provided 2023-07-10 criteria provided, single submitter clinical testing

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