ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)

gnomAD frequency: 0.00022  dbSNP: rs146491000
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555138 SCV000626155 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV002293448 SCV002586516 uncertain significance not provided 2022-10-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002476088 SCV002779915 uncertain significance Fanconi anemia complementation group A 2022-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000555138 SCV002095001 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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