ClinVar Miner

Submissions for variant NM_144997.7(FLCN):c.246C>T (p.Cys82=) (rs150712346)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163467 SCV000214019 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing
Invitae RCV001085160 SCV000291440 likely benign Multiple fibrofolliculomas 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756169 SCV000883895 likely benign not provided 2017-09-16 criteria provided, single submitter clinical testing The c.246C>T; p.Cys82Cys variant (rs150712346) does not alter the amino acid sequence of the FLCN protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut v2.9.0). This variant has not been reported in association with any hereditary cancer syndromes in the medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.02 percent (identified on 56 out of 276,584 chromosomes). Based on these observations, the p.Cys82Cys variant is likely to be benign.
GeneDx RCV000756169 SCV000971148 likely benign not provided 2018-04-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756169 SCV001151235 likely benign not provided 2019-11-01 criteria provided, single submitter clinical testing

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