ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.3973C>T (p.Leu1325=) (rs34373805)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117073 SCV000151215 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117073 SCV000228032 benign not specified 2015-06-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000117073 SCV000269121 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Leu1325Leu in exon 23 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 47.5% (2011/4238) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (; dbSNP rs34373805).
PreventionGenetics,PreventionGenetics RCV000117073 SCV000307952 benign not specified 2015-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000117073 SCV000519350 benign not specified 2016-02-08 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 RCV000711683 SCV000842070 benign not provided 2017-09-12 criteria provided, single submitter clinical testing

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