ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)

dbSNP: rs398124523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082617 SCV000114659 pathogenic not provided 2012-12-27 criteria provided, single submitter clinical testing
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine RCV003326120 SCV004032367 pathogenic Birt-Hogg-Dube syndrome 2023-07-01 no assertion criteria provided clinical testing

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