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: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803891 SCV000943778 likely benign Fanconi anemia 2024-06-26 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].
Ambry Genetics RCV004972973 SCV005586495 likely benign Inborn genetic diseases 2024-11-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV001276569 SCV005639584 uncertain significance Fanconi anemia complementation group A 2024-05-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276569 SCV001462967 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing

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