ClinVar Miner

Submissions for variant NM_022039.4(FBXW4):c.1380C>T (p.Phe460=)

gnomAD frequency: 0.00073  dbSNP: rs145250200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324606 SCV000335763 benign not specified 2015-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003909949 SCV004723896 likely benign FBXW4-related disorder 2019-12-24 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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