ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)

gnomAD frequency: 0.00158  dbSNP: rs17227071
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862980 SCV001003563 benign Fanconi anemia 2025-01-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816951 SCV002065188 likely benign not specified 2019-06-26 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000862980 SCV002534993 benign Fanconi anemia 2020-10-23 criteria provided, single submitter curation
Ambry Genetics RCV004973042 SCV005584561 likely benign Inborn genetic diseases 2024-10-04 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.
Natera, Inc. RCV001276505 SCV001462884 benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003975390 SCV004789347 likely benign FANCA-related disorder 2019-10-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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