ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.658C>T (p.Gln220Ter) (rs397508778)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056401 SCV000071544 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Fulgent Genetics,Fulgent Genetics RCV000763566 SCV000894405 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral absence of the vas deferens 2018-10-31 criteria provided, single submitter clinical testing
Mendelics RCV000056401 SCV000886230 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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