ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)

gnomAD frequency: 0.00030  dbSNP: rs141128234
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630964 SCV000751940 likely benign Fanconi anemia 2023-12-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000630964 SCV002535026 likely benign Fanconi anemia 2021-09-20 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003953110 SCV004782355 likely benign FANCA-related condition 2023-02-13 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).

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