ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr)

gnomAD frequency: 0.00085  dbSNP: rs114804033
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253730 SCV000307900 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000943325 SCV001089271 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000943325 SCV001790320 uncertain significance not provided 2020-07-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000943325 SCV002049144 likely benign not provided 2021-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518613 SCV003705967 likely benign Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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