ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.424del (p.Ile142fs)

dbSNP: rs387906363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007566 SCV001981564 pathogenic Cystic fibrosis 2021-09-24 reviewed by expert panel research
OMIM RCV000007566 SCV000027767 pathogenic Cystic fibrosis 1991-05-01 no assertion criteria provided literature only
Natera, Inc. RCV001826434 SCV002080137 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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