Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176532 | SCV000228204 | uncertain significance | not provided | 2014-08-25 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001797664 | SCV002041563 | likely benign | not specified | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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, |
RCV000176532 | SCV003800058 | likely benign | not provided | 2022-11-18 | criteria provided, single submitter | clinical testing |