Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001903469 | SCV002171571 | benign | Alagille syndrome due to a JAG1 point mutation | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004042644 | SCV003895000 | uncertain significance | Cardiovascular phenotype | 2023-01-20 | criteria provided, single submitter | clinical testing | The c.2632G>A (p.D878N) alteration is located in exon 22 (coding exon 22) of the JAG1 gene. This alteration results from a G to A substitution at nucleotide position 2632, causing the aspartic acid (D) at amino acid position 878 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |