ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.4431G>A (p.Leu1477=) (rs2291568)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711688 SCV000842075 benign not provided 2017-12-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117075 SCV000340015 benign not specified 2016-03-01 criteria provided, single submitter clinical testing
GeneDx RCV000117075 SCV000519423 benign not specified 2016-02-12 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.
Genetic Services Laboratory, University of Chicago RCV000117075 SCV000151217 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117075 SCV000269124 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu1477Leu in exon 25 of FLNC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 35.4% (1352/3822) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2291568).
PreventionGenetics RCV000117075 SCV000307955 benign not specified criteria provided, single submitter clinical testing

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