ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.164+28A>G (rs34010645)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224870 SCV000280746 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000234560 SCV000284998 benign Cystic fibrosis 2016-02-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594558 SCV000700265 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV001012529 SCV001172994 benign Inborn genetic diseases 2018-05-15 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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