ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.756G>A (p.Ala252=)

dbSNP: rs746664975
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876453 SCV001019027 likely benign Birt-Hogg-Dube syndrome 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026577 SCV001188985 likely benign Hereditary cancer-predisposing syndrome 2019-05-05 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.
Fulgent Genetics, Fulgent Genetics RCV002501347 SCV002809633 likely benign Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer 2022-04-19 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321758 SCV004026711 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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