ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1008A>G (p.Ala336=)

gnomAD frequency: 0.00004  dbSNP: rs1460026241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867515 SCV001008752 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478537 SCV004221902 likely benign not provided 2023-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276559 SCV001462957 likely benign Fanconi anemia complementation group A 2020-05-05 no assertion criteria provided clinical testing

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