ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3240-42G>A

gnomAD frequency: 0.40844  dbSNP: rs1800345
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251643 SCV000302487 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001510314 SCV001717318 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537681 SCV001754616 benign Fanconi anemia complementation group A 2021-07-08 criteria provided, single submitter clinical testing
GeneDx RCV001598632 SCV001827299 benign not provided 2019-01-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23021409)

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