ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2504+6C>G

gnomAD frequency: 0.00016  dbSNP: rs749556479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001246492 SCV001419850 likely benign Fanconi anemia 2025-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499424 SCV002783288 likely benign Fanconi anemia complementation group A 2024-03-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998770 SCV004221969 likely benign not specified 2024-03-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001246492 SCV002092603 uncertain significance Fanconi anemia 2020-02-26 no assertion criteria provided clinical testing

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