ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.7760G>T (p.Trp2587Leu)

dbSNP: rs144321868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197294 SCV001367944 uncertain significance Atelosteogenesis type III 2019-03-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Invitae RCV001411753 SCV001613819 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001411753 SCV002586601 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002561053 SCV003530634 likely benign Inborn genetic diseases 2022-11-07 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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