ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3297A>G (p.Val1099=) (rs3734973)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711679 SCV000842066 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000117069 SCV000513068 benign not specified 2016-01-05 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 RCV000117069 SCV000151211 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117069 SCV000269120 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Val1099Val in exon 21 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 48.3% (1996/4136) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3734973).
PreventionGenetics RCV000117069 SCV000307946 benign not specified 2015-12-30 criteria provided, single submitter clinical testing

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