ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.596+6G>A

gnomAD frequency: 0.00004  dbSNP: rs369548513
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539715 SCV000626211 likely benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000539715 SCV002535061 likely benign Fanconi anemia 2021-06-04 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478124 SCV004218631 likely benign not provided 2022-11-29 criteria provided, single submitter clinical testing

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