ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1901-10C>T

gnomAD frequency: 0.00006  dbSNP: rs766654290
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869142 SCV001010544 likely benign Fanconi anemia 2024-05-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000869142 SCV002534930 likely benign Fanconi anemia 2020-11-25 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002501290 SCV002803503 likely benign Fanconi anemia complementation group A 2021-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478542 SCV004221937 likely benign not provided 2023-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000869142 SCV002092664 likely benign Fanconi anemia 2021-02-03 no assertion criteria provided clinical testing

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