ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3627-8T>G

gnomAD frequency: 0.00003  dbSNP: rs77877981
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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 RCV000864064 SCV001004814 likely benign Fanconi anemia 2025-01-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478530 SCV004218572 likely benign not provided 2023-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274557 SCV001458813 uncertain significance Fanconi anemia complementation group A 2020-02-13 no assertion criteria provided clinical testing

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