ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) (rs753009073)

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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 RCV000239620 SCV000298093 pathogenic Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012269 SCV001172701 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-07 criteria provided, single submitter clinical testing Conflicting evidence

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