ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3935-7G>A

dbSNP: rs2062071481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001471055 SCV001675157 likely benign Fanconi anemia 2023-09-10 criteria provided, single submitter clinical testing
Istanbul Faculty of Medicine, Istanbul University RCV001255871 SCV001296376 uncertain significance Fanconi anemia complementation group A 2020-03-17 no assertion criteria provided clinical testing Segregates in family

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