ClinVar Miner

Submissions for variant NM_005263.5(GFI1):c.-14A>C

gnomAD frequency: 0.00101  dbSNP: rs200972824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000986340 SCV000769110 benign Neutropenia, severe congenital, 2, autosomal dominant 2024-10-24 criteria provided, single submitter clinical testing
Mendelics RCV000986340 SCV001135315 likely benign Neutropenia, severe congenital, 2, autosomal dominant 2019-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905751 SCV004718031 likely benign GFI1-related disorder 2019-07-02 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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