ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)

dbSNP: rs1302242291
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001417031 SCV001619226 likely benign Fanconi anemia 2020-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499893 SCV002810798 likely benign Fanconi anemia complementation group A 2021-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478824 SCV004221998 likely benign not provided 2023-08-19 criteria provided, single submitter clinical testing

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