ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3964-16T>C

gnomAD frequency: 0.00006  dbSNP: rs199672530
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176532 SCV000228204 uncertain significance not provided 2014-08-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797664 SCV002041563 likely benign not specified 2023-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056951 SCV002459466 likely benign Cystic fibrosis 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002056951 SCV002621095 uncertain significance Cystic fibrosis 2014-12-08 criteria provided, single submitter clinical testing The c.3964-16T>C intronic variant results from a T to C substitution 16 nucleotides upstream from coding exon 25 in the CFTR gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor/donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000176532 SCV003800058 likely benign not provided 2022-11-18 criteria provided, single submitter clinical testing

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