ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1254T>C (p.Asn418=) (rs62469440)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173691 SCV000224834 benign not specified 2014-08-19 criteria provided, single submitter clinical testing
Invitae RCV000956486 SCV001103250 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Invitae RCV001272208 SCV001698567 likely benign Cystic fibrosis 2018-12-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272208 SCV001453959 uncertain significance Cystic fibrosis 2020-01-24 no assertion criteria provided clinical testing

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