ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.274A>G (p.Ile92Val)

gnomAD frequency: 0.00229  dbSNP: rs62622011
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000897835 SCV000714724 likely benign not provided 2020-05-28 criteria provided, single submitter clinical testing
Invitae RCV000897835 SCV001042004 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000897835 SCV001473685 benign not provided 2020-02-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953014 SCV004773185 likely benign FLNB-related condition 2024-02-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000897835 SCV001798409 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000897835 SCV001966238 likely benign not provided no assertion criteria provided clinical testing

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