ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4299C>T (p.Ser1433=)

gnomAD frequency: 0.00002  dbSNP: rs568293451
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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 RCV001493032 SCV001697654 likely benign Fanconi anemia 2024-08-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478857 SCV004218613 likely benign not provided 2023-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005014574 SCV005642539 likely benign Fanconi anemia complementation group A 2024-06-17 criteria provided, single submitter clinical testing

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