ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) (rs79688066)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000587227 SCV000344443 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000855618 SCV000697012 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV001088231 SCV001010039 likely benign Cystic fibrosis 2020-11-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001088231 SCV001433651 likely benign Cystic fibrosis 2019-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001088231 SCV001460119 uncertain significance Cystic fibrosis 2017-05-09 no assertion criteria provided clinical testing

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