ClinVar Miner

Submissions for variant NM_001457.4(FLNB):c.6843C>T (p.Ile2281=)

gnomAD frequency: 0.00062  dbSNP: rs140332932
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178457 SCV000230540 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000178457 SCV001084626 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000178457 SCV001767391 likely benign not provided 2021-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537464 SCV004720569 likely benign FLNB-related disorder 2019-06-17 no assertion criteria provided 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).

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