ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)

gnomAD frequency: 0.00003  dbSNP: rs779268656
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470237 SCV000547754 likely benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002480394 SCV002774155 likely benign not provided 2022-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276503 SCV001462882 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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