ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) (rs2070825)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079703 SCV000111586 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000079703 SCV000168575 benign not specified 2013-12-19 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.
Claritas Genomics RCV000079703 SCV000222854 benign not specified 2012-04-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079703 SCV000306624 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079703 SCV000603729 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622060 SCV000738295 benign Cardiovascular phenotype 2014-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000715549 SCV000846378 benign History of neurodevelopmental disorder 2014-12-30 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000079703 SCV000151196 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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