ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) (rs57108893)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079702 SCV000111585 benign not specified 2014-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000079702 SCV000168574 benign not specified 2014-03-21 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 RCV000079702 SCV000222852 benign not specified 2013-07-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224486 SCV000280963 benign not provided 2016-02-11 criteria provided, single submitter clinical testing
Invitae RCV000465661 SCV000556045 benign Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2020-12-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283606 SCV000603748 benign none provided 2020-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619331 SCV000738343 benign Cardiovascular phenotype 2015-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715886 SCV000846718 benign History of neurodevelopmental disorder 2015-07-20 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.
Genetic Services Laboratory, University of Chicago RCV000079702 SCV000151194 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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