ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile) (rs397508308)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665515 SCV000789653 uncertain significance Cystic fibrosis 2017-02-16 criteria provided, single submitter clinical testing
CFTR-France RCV001009540 SCV001169635 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-09 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

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