ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) (rs201173693)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117047 SCV000151179 benign not specified 2013-11-25 criteria provided, single submitter clinical testing
Claritas Genomics RCV000117047 SCV000222824 benign not specified 2013-03-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000117047 SCV000232615 benign not specified 2014-11-10 criteria provided, single submitter clinical testing
GeneDx RCV000117047 SCV000250368 benign not specified 2014-08-26 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.
Invitae RCV000756175 SCV000287136 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117047 SCV000306616 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250295 SCV000319340 likely benign Cardiovascular phenotype 2015-02-18 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659652 SCV000781495 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717936 SCV000848797 likely benign History of neurodevelopmental disorder 2015-02-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000117047 SCV000883901 benign not specified 2019-05-02 criteria provided, single submitter clinical testing

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