ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)

gnomAD frequency: 0.00004  dbSNP: rs757468756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470449 SCV000547734 likely benign Fanconi anemia 2023-12-11 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237862 SCV002010193 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000470449 SCV002093165 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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