ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.744-34_744-31del

dbSNP: rs768226435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507936 SCV000603036 likely benign not specified 2017-01-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478082 SCV004221706 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535637 SCV004732652 likely benign CFTR-related disorder 2022-09-14 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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