ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) (rs397508635)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577001 SCV000924231 pathogenic Cystic fibrosis 2018-08-31 reviewed by expert panel research
Counsyl RCV000577001 SCV000800113 uncertain significance Cystic fibrosis 2018-05-22 criteria provided, single submitter clinical testing
Mendelics RCV000577001 SCV000886335 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759040 SCV000888093 uncertain significance not provided 2018-04-30 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577001 SCV000679454 not provided Cystic fibrosis no assertion provided literature only

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