ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1755C>T (p.Pro585=)

dbSNP: rs144704750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001416094 SCV001618265 likely benign Fanconi anemia 2024-01-11 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001416094 SCV002534923 likely benign Fanconi anemia 2020-10-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002507512 SCV002799256 likely benign Fanconi anemia complementation group A 2021-12-05 criteria provided, single submitter clinical testing

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