ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.872-3C>T

dbSNP: rs1555608676
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558016 SCV000632897 likely benign Birt-Hogg-Dube syndrome 2024-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018236 SCV001179446 likely benign Hereditary cancer-predisposing syndrome 2022-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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