ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)

gnomAD frequency: 0.00005  dbSNP: rs201408009
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540839 SCV000626463 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000540839 SCV002529469 uncertain significance Fanconi anemia 2022-03-16 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316681 SCV004017652 likely benign Fanconi anemia complementation group D2 2023-07-07 criteria provided, single submitter clinical testing

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