ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.531C>G (p.Val177=)

dbSNP: rs747006885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822635 SCV002071790 uncertain significance not specified 2021-08-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482368 SCV002776467 uncertain significance Fanconi anemia complementation group D2 2021-11-17 criteria provided, single submitter clinical testing
Invitae RCV003523113 SCV004284761 likely benign Fanconi anemia 2023-04-28 criteria provided, single submitter clinical testing

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