ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=)

dbSNP: rs139033444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477552 SCV000558534 likely benign Fanconi anemia 2024-01-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821328 SCV002070981 likely benign not specified 2021-04-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000477552 SCV002529485 likely benign Fanconi anemia 2022-01-13 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003431026 SCV004146902 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FANCD2: BP4, BP7

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