ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.669+17_669+18del

dbSNP: rs751881445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328875 SCV000394182 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000328875 SCV002470986 likely benign Fanconi anemia 2024-11-07 criteria provided, single submitter clinical testing

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