ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-13del

gnomAD frequency: 0.00222  dbSNP: rs750294275
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518787 SCV001727546 benign Cystic fibrosis 2021-12-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810745 SCV002048623 benign not provided 2020-12-22 criteria provided, single submitter clinical testing
Mendelics RCV002246400 SCV002518176 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501810 SCV002807492 likely benign Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-08-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533941 SCV004741646 likely benign CFTR-related disorder 2021-03-10 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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