ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val)

gnomAD frequency: 0.00450  dbSNP: rs149125003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232848 SCV000291151 benign Fanconi anemia 2023-11-27 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503335 SCV000594685 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000232848 SCV002529447 likely benign Fanconi anemia 2021-05-18 criteria provided, single submitter curation
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153541 SCV003843497 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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