ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)

gnomAD frequency: 0.00016  dbSNP: rs151089298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803891 SCV000943778 likely benign Fanconi anemia 2024-01-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001276569 SCV001481408 uncertain significance Fanconi anemia complementation group A 2020-09-18 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV001276569 SCV001462967 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing

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