ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) (rs397508588)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577418 SCV000788520 likely pathogenic Cystic fibrosis 2017-05-02 criteria provided, single submitter clinical testing
CFTR-France RCV001009531 SCV001169626 pathogenic Cystic fibrosis; CFTR-related disorders 2018-01-29 criteria provided, single submitter curation the variant causes a phenotype but regarding our data, we can't formally attribute it to CF, CFTR-RD or both
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577418 SCV000679384 not provided Cystic fibrosis no assertion provided literature only

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