ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)

gnomAD frequency: 0.00005  dbSNP: rs376956791
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001120904 SCV001279424 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.
Invitae RCV001520811 SCV001730008 benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001120904 SCV002804855 likely benign Fanconi anemia complementation group I 2021-12-24 criteria provided, single submitter clinical testing

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