ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) (rs146804928)

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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 RCV000078998 SCV000110867 uncertain significance not provided 2013-06-20 criteria provided, single submitter clinical testing
Counsyl RCV000666455 SCV000790751 likely benign Cystic fibrosis 2017-04-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780156 SCV000917203 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000666455 SCV001006710 likely benign Cystic fibrosis 2020-11-14 criteria provided, single submitter clinical testing

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