ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1539-16_1539-12del (rs398124531)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082631 SCV000114673 uncertain significance not provided 2012-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000082631 SCV001783461 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports a deleterious effect on splicing; Observed in individuals with unspecified cancers (Mandelker 2017); This variant is associated with the following publications: (PMID: 28873162)

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