Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591762 | SCV000703271 | uncertain significance | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001342639 | SCV001536583 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2022-06-11 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160014 | SCV003883049 | uncertain significance | Inborn genetic diseases | 2023-02-09 | criteria provided, single submitter | clinical testing | The c.2671G>A (p.A891T) 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 2671, causing the alanine (A) at amino acid position 891 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |