ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2127G>A (p.Pro709=)

dbSNP: rs771226546
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001459495 SCV001663335 likely benign Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495661 SCV002799958 likely benign Fanconi anemia complementation group A 2021-09-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151324 SCV003839498 likely benign not specified 2022-11-22 no assertion criteria provided clinical testing

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