ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.12C>A (p.Ile4=)

dbSNP: rs752123350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914332 SCV001059504 likely benign Birt-Hogg-Dube syndrome 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382074 SCV002695556 likely benign Hereditary cancer-predisposing syndrome 2021-05-10 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478574 SCV004218924 likely benign not provided 2022-12-29 criteria provided, single submitter clinical testing

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