ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter) (rs121908810)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056363 SCV000071555 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Mendelics RCV000056363 SCV000886219 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759035 SCV000888077 pathogenic not provided 2017-10-12 criteria provided, single submitter clinical testing
Counsyl RCV000056363 SCV000485202 pathogenic Cystic fibrosis 2015-11-27 no assertion criteria provided clinical testing

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