ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.249+4A>G

gnomAD frequency: 0.00002  dbSNP: rs753648691
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567172 SCV000673408 likely benign Hereditary cancer-predisposing syndrome 2023-06-06 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.
Invitae RCV000704120 SCV000833055 likely benign Birt-Hogg-Dube syndrome 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV002285368 SCV002575192 uncertain significance not provided 2022-09-23 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV000704120 SCV004195372 uncertain significance Birt-Hogg-Dube syndrome 2022-07-25 criteria provided, single submitter clinical testing

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