ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)

gnomAD frequency: 0.00001  dbSNP: rs202107465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865215 SCV001006147 likely benign Fanconi anemia 2025-01-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274556 SCV001458812 uncertain significance Fanconi anemia complementation group A 2020-03-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965690 SCV004781748 likely benign FANCA-related disorder 2024-05-02 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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