ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter) (rs137852929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239639 SCV000298082 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492426 SCV000580731 pathogenic Hereditary cancer-predisposing syndrome 2018-05-14 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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