ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.523-19GTTTT[2]

dbSNP: rs755643283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868284 SCV001009595 likely benign Fanconi anemia 2024-10-17 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238250 SCV002010568 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000868284 SCV002535060 likely benign Fanconi anemia 2021-03-28 criteria provided, single submitter curation

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