ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)

gnomAD frequency: 0.00072  dbSNP: rs149531696
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251371 SCV000302504 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094473 SCV000399806 benign Fanconi anemia complementation group A 2017-05-30 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 RCV000285113 SCV000558857 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800620 SCV002046841 benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000251371 SCV002067038 likely benign not specified 2020-04-23 criteria provided, single submitter clinical testing

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