ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1210-34TG[9]

dbSNP: rs3832534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009362 SCV001169215 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003656638 SCV001471668 benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Invitae RCV001009362 SCV001726689 benign Cystic fibrosis 2021-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915409 SCV004735715 likely benign CFTR-related condition 2021-03-04 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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