ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) (rs187029309)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079704 SCV000111587 benign not specified 2013-07-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079704 SCV000151197 benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000079704 SCV000250350 benign not specified 2016-05-09 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 RCV001083521 SCV000287151 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
Ambry Genetics RCV000250600 SCV000319460 benign Cardiovascular phenotype 2015-10-23 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282741 SCV000603736 benign none provided 2020-05-28 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514451 SCV000610452 likely benign not provided 2017-03-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079704 SCV000613330 benign not specified 2017-01-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659672 SCV000781515 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719316 SCV000850182 benign History of neurodevelopmental disorder 2015-10-23 criteria provided, single submitter clinical testing
Birmingham Platelet Group; University of Birmingham RCV001270494 SCV001450793 likely benign Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079704 SCV001739597 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514451 SCV001800635 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000514451 SCV001808855 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000514451 SCV001928969 likely benign not provided no assertion criteria provided clinical testing

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