ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1992+10T>C

gnomAD frequency: 0.00036  dbSNP: rs375345390
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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 RCV001444308 SCV001647304 likely benign Fanconi anemia 2024-11-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497053 SCV002809448 likely benign Fanconi anemia complementation group I 2021-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915483 SCV004746838 likely benign FANCI-related disorder 2019-09-18 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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