ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1047G>A (p.Ala349=)

gnomAD frequency: 0.00053  dbSNP: rs144900606
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085922 SCV000752001 benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761974 SCV000892203 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001085922 SCV002534903 likely benign Fanconi anemia 2021-10-07 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002499036 SCV002807823 likely benign Fanconi anemia complementation group A 2022-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953112 SCV004776160 likely benign FANCA-related disorder 2022-08-24 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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