ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) (rs397508621)

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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 RCV000506407 SCV000601109 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing
Counsyl RCV000664625 SCV000788621 uncertain significance Cystic fibrosis 2017-04-21 criteria provided, single submitter clinical testing
CFTR-France RCV001009375 SCV001169228 pathogenic Cystic fibrosis; CFTR-related disorders 2015-07-24 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD

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