ClinVar Miner

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

gnomAD frequency: 0.00368  dbSNP: rs201173693
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Total submissions: 13
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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
Eurofins NTD LLC (GA) 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 Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-12-17 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 This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659652 SCV000781495 likely benign Connective tissue disorder 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 RCV001723679 SCV000883901 benign not provided 2021-10-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000117047 SCV001808390 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723679 SCV001957322 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723679 SCV001965458 likely benign not provided no assertion criteria provided clinical testing

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