ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)

gnomAD frequency: 0.00034  dbSNP: rs371915501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503471 SCV000594682 likely benign not specified 2016-12-07 criteria provided, single submitter clinical testing
Invitae RCV001440736 SCV001643647 likely benign Fanconi anemia 2023-12-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001440736 SCV002529497 likely benign Fanconi anemia 2021-08-04 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002490830 SCV002803378 likely benign Fanconi anemia complementation group D2 2021-10-29 criteria provided, single submitter clinical testing

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