ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)

dbSNP: rs768963919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576856 SCV000677601 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269844 SCV001450145 likely pathogenic not provided 2015-06-09 criteria provided, single submitter clinical testing

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