ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=)

gnomAD frequency: 0.00063  dbSNP: rs181219364
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518479 SCV001727175 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001518479 SCV002529474 likely benign Fanconi anemia 2021-06-13 criteria provided, single submitter curation
Genetic Services Laboratory, University of Chicago RCV003151336 SCV003839511 likely benign not specified 2022-12-14 no assertion criteria provided clinical testing

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