ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)

gnomAD frequency: 0.00002  dbSNP: rs397508300
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507002 SCV000601061 uncertain significance not specified 2017-04-21 criteria provided, single submitter clinical testing
Mendelics RCV000757803 SCV000886274 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000757803 SCV001574749 likely pathogenic Cystic fibrosis 2021-09-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000757803 SCV001822084 likely pathogenic Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826626 SCV002080672 likely pathogenic CFTR-related disorders 2019-06-21 no assertion criteria provided clinical testing

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