ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.237C>T (p.Asp79=)

gnomAD frequency: 0.00089  dbSNP: rs144151341
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862441 SCV001002951 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816946 SCV002065355 likely benign not specified 2017-11-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000862441 SCV002534950 likely benign Fanconi anemia 2021-04-23 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003928344 SCV004740449 likely benign FANCA-related disorder 2019-12-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000862441 SCV002090785 likely benign Fanconi anemia 2019-11-11 no assertion criteria provided clinical testing

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