ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)

gnomAD frequency: 0.00009  dbSNP: rs138144828
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630986 SCV000751963 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821782 SCV002071396 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000630986 SCV002535028 likely benign Fanconi anemia 2021-11-03 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001274521 SCV002795139 likely benign Fanconi anemia complementation group A 2021-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411493 SCV004143592 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003905685 SCV004723340 likely benign FANCA-related disorder 2019-06-12 criteria provided, single submitter 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).
Natera, Inc. RCV001274521 SCV001458750 likely benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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