ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1585-9395C>G

gnomAD frequency: 0.00223  dbSNP: rs77164005
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759757 SCV000889293 uncertain significance not provided 2022-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000759757 SCV004158952 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CFTR: BS2
PreventionGenetics, part of Exact Sciences RCV004540084 SCV004796397 likely benign CFTR-related disorder 2021-04-22 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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