ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1614G>A (p.Gly538=)

gnomAD frequency: 0.00010  dbSNP: rs747421581
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869661 SCV001011105 likely benign Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000869661 SCV002534919 likely benign Fanconi anemia 2021-11-15 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003424405 SCV004143613 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Natera, Inc. RCV000869661 SCV002095026 likely benign Fanconi anemia 2020-01-30 no assertion criteria provided clinical testing

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