ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1227T>C (p.Phe409=)

gnomAD frequency: 0.00004  dbSNP: rs778548877
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000388212 SCV000332916 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Invitae RCV001396160 SCV001597883 likely benign Cystic fibrosis 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001396160 SCV001822041 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001396160 SCV002663253 likely benign Cystic fibrosis 2021-10-12 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 RCV001828184 SCV004779423 likely benign CFTR-related disorder 2022-06-14 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. RCV001828184 SCV002080568 likely benign CFTR-related disorder 2018-07-19 no assertion criteria provided clinical testing

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