ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.199dup (p.Ala67fs)

dbSNP: rs1555611438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003322322 SCV004026723 pathogenic not provided 2025-03-04 criteria provided, single submitter clinical testing
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine RCV003326170 SCV004032377 pathogenic Birt-Hogg-Dube syndrome 2023-07-01 no assertion criteria provided clinical testing

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