ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) (rs397508635)

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Total submissions: 7
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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
Baylor Genetics RCV001004226 SCV001163102 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 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
Natera, Inc. RCV000577001 SCV001464065 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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