ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1140C>T (p.Asp380=)

gnomAD frequency: 0.00003  dbSNP: rs768454196
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552761 SCV000632825 likely benign Birt-Hogg-Dube syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017436 SCV001178519 likely benign Hereditary cancer-predisposing syndrome 2019-12-05 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.
GeneDx RCV001551753 SCV001772326 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001017436 SCV002530096 likely benign Hereditary cancer-predisposing syndrome 2021-12-27 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001551753 SCV004218911 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing

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