ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1518C>A (p.Ile506=)

gnomAD frequency: 0.00002  dbSNP: rs1800092
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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 RCV000865586 SCV001134114 uncertain significance not provided 2019-03-15 criteria provided, single submitter clinical testing
Invitae RCV001405872 SCV001607813 likely benign Cystic fibrosis 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001405872 SCV001822057 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001593079 SCV001822058 uncertain significance Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001405872 SCV002708131 likely benign Cystic fibrosis 2022-05-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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