ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) (rs138070947)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130128 SCV000184960 likely benign Hereditary cancer-predisposing syndrome 2019-04-01 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
Invitae RCV000226985 SCV000291447 likely benign Multiple fibrofolliculomas 2019-12-27 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000226985 SCV000298049 uncertain significance Multiple fibrofolliculomas 2016-07-18 criteria provided, single submitter clinical testing

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