ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1007-6C>T

gnomAD frequency: 0.00004  dbSNP: rs770125368
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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 RCV001447952 SCV001651032 likely benign Fanconi anemia 2024-01-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001447952 SCV002534902 likely benign Fanconi anemia 2021-08-26 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003965880 SCV004780329 likely benign FANCA-related disorder 2022-07-06 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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