ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.164+28A>G

gnomAD frequency: 0.00589  dbSNP: rs34010645
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000234560 SCV001981591 uncertain significance Cystic fibrosis 2018-08-31 reviewed by expert panel research
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224870 SCV000280746 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000234560 SCV000284998 benign Cystic fibrosis 2023-11-20 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000594558 SCV000700265 benign not specified 2017-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000234560 SCV001172994 benign Cystic fibrosis 2022-03-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000224870 SCV002504175 likely benign not provided 2018-07-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Sema4, Sema4 RCV002256128 SCV002529682 benign Hereditary pancreatitis 2020-04-28 criteria provided, single submitter curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000224870 SCV003800258 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000224870 SCV003831638 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000224870 SCV004158941 benign not provided 2022-04-01 criteria provided, single submitter clinical testing CFTR: BS1, BS2

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