ClinVar Miner

Submissions for variant NM_001458.4(FLNC):c.147C>T (p.His49=) (rs3734972)

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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 RCV000711677 SCV000842064 benign not provided 2017-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000117066 SCV000519345 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.
Genetic Services Laboratory, University of Chicago RCV000117066 SCV000151208 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000117066 SCV000269118 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.His49His in exon 1 of FLNC: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 11.1% (487/4404) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs3734972).
PreventionGenetics RCV000117066 SCV000307927 benign not specified 2016-01-08 criteria provided, single submitter clinical testing

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