Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002890513 | SCV003242389 | benign | Alagille syndrome due to a JAG1 point mutation | 2023-06-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004065976 | SCV004064480 | uncertain significance | Cardiovascular phenotype | 2023-08-22 | criteria provided, single submitter | clinical testing | The c.3178C>T (p.R1060W) alteration is located in exon 25 (coding exon 25) of the JAG1 gene. This alteration results from a C to T substitution at nucleotide position 3178, causing the arginine (R) at amino acid position 1060 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |