ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.378-6_378-5del

dbSNP: rs55973240
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224506 SCV000281477 likely benign not provided 2015-08-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Laboratory Services, Illumina RCV000356544 SCV000439461 benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702431 SCV001934151 benign Fanconi anemia complementation group D2 2021-08-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000356544 SCV002529519 benign Fanconi anemia 2019-12-09 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001702431 SCV002804279 benign Fanconi anemia complementation group D2 2021-07-02 criteria provided, single submitter clinical testing

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