ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.1509+1G>A

gnomAD frequency: 0.00001  dbSNP: rs745877509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Istanbul Faculty of Medicine, Istanbul University RCV001255878 SCV001296383 likely pathogenic Fanconi anemia complementation group E 2020-03-17 no assertion criteria provided clinical testing Segregates in family

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