ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.1032C>T (p.Val344=) (rs2291562)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117063 SCV000151205 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117063 SCV000269117 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val344Val in exon 6 of FLNC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 26.2% (1108/4224) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2291562).
PreventionGenetics,PreventionGenetics RCV000117063 SCV000307925 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000117063 SCV000519698 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.
Athena Diagnostics Inc RCV000711674 SCV000842061 benign not provided 2017-12-13 criteria provided, single submitter clinical testing

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