ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1699-7C>A

gnomAD frequency: 0.00498  dbSNP: rs28446881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471365 SCV000558937 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115980 SCV001273998 benign Fanconi anemia complementation group I 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics RCV001115980 SCV002803606 likely benign Fanconi anemia complementation group I 2021-07-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001115980 SCV004015663 benign Fanconi anemia complementation group I 2023-07-07 criteria provided, single submitter clinical testing

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