ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3514-4A>G

gnomAD frequency: 0.00219  dbSNP: rs149388130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630983 SCV000751960 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001293880 SCV001482546 uncertain significance Fanconi anemia complementation group A 2020-12-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001821781 SCV002065166 likely benign not specified 2018-04-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000630983 SCV002535010 likely benign Fanconi anemia 2021-09-28 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478351 SCV004218565 benign not provided 2022-10-10 criteria provided, single submitter clinical testing

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