ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1353T>C (p.Pro451=)

dbSNP: rs1597580172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065452 SCV002344764 likely benign Birt-Hogg-Dube syndrome 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382020 SCV002691746 likely benign Hereditary cancer-predisposing syndrome 2020-03-30 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.
Fulgent Genetics, Fulgent Genetics RCV002501357 SCV002804538 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-03-24 criteria provided, single submitter clinical testing

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