ClinVar Miner

Submissions for variant NM_002017.5(FLI1):c.74C>T (p.Ala25Val)

gnomAD frequency: 0.00110  dbSNP: rs200865469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885950 SCV001029431 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280894 SCV002569322 uncertain significance Bleeding disorder, platelet-type, 21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000885950 SCV005211297 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948368 SCV004767636 likely benign FLI1-related disorder 2021-07-28 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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