ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4010+9A>G

dbSNP: rs1383806921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001421977 SCV001624511 likely benign Fanconi anemia 2024-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895345 SCV004716154 likely benign FANCA-related disorder 2023-01-27 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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