ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)

gnomAD frequency: 0.00053  dbSNP: rs118138806
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000443415 SCV000510921 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV001086071 SCV000558939 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001117440 SCV001275626 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 RCV001117440 SCV002810232 likely benign Fanconi anemia complementation group I 2021-08-23 criteria provided, single submitter clinical testing

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