ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2808A>G (p.Pro936=)

gnomAD frequency: 0.00001  dbSNP: rs397508438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260391 SCV001437354 likely benign not specified 2020-09-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532117 SCV001747527 uncertain significance not provided 2021-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001705705 SCV001822126 likely benign Cystic fibrosis 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV001705705 SCV002747464 likely benign Cystic fibrosis 2019-10-06 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.

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