ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3564G>A (p.Ser1188=)

gnomAD frequency: 0.00009  dbSNP: rs146804928
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000666455 SCV002618854 likely benign Cystic fibrosis 2020-08-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV001831818 SCV004717399 likely benign CFTR-related disorder 2021-05-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001831818 SCV002075844 likely benign CFTR-related disorder 2017-11-21 no assertion criteria provided clinical testing

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