ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) (rs1800123)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507411 SCV000603027 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589624 SCV000696979 uncertain significance not provided 2016-02-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589624 SCV000860875 uncertain significance not provided 2018-04-19 criteria provided, single submitter clinical testing
OMIM RCV000007635 SCV000027836 pathogenic Cystic fibrosis 1994-05-15 no assertion criteria provided literature only

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