ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) (rs1057517068)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000411629 SCV000696906 pathogenic Cystic fibrosis 2016-08-04 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2554dupT (p.Tyr852Leufs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 121240 control chromosomes, but has been reported in numerous affected individuals in the literature. Taken together, this variant is classified as pathogenic.
Mendelics RCV000411629 SCV000886275 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Counsyl RCV000411629 SCV000486698 likely pathogenic Cystic fibrosis 2016-07-20 no assertion criteria provided clinical testing

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