ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)

gnomAD frequency: 0.00014  dbSNP: rs200698961
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791641 SCV000930899 benign Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001759486 SCV001988364 uncertain significance not provided 2022-04-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with pancreatic cancer or pediatric lymphoma and in healthy individuals undergoing whole exome sequencing (Shindo 2017, Pritchard 2018, Hu 2020, Ryland 2020); This variant is associated with the following publications: (PMID: 28767289, 32659497, 31942822, 29641532)
Fulgent Genetics, Fulgent Genetics RCV001274662 SCV002786896 uncertain significance Fanconi anemia complementation group A 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274662 SCV001459016 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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