ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2810dup (p.Val938fs) (rs193922510)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029504 SCV000245955 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Integrated Genetics/Laboratory Corporation of America RCV000029504 SCV000052155 likely pathogenic Cystic fibrosis 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759760 SCV000889298 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000029504 SCV000992334 pathogenic Cystic fibrosis 2019-03-28 criteria provided, single submitter clinical testing

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