Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002555870 | SCV001233613 | likely benign | Blau syndrome; Regional enteritis | 2023-08-27 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003132207 | SCV003815964 | uncertain significance | Blau syndrome | 2019-11-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003160562 | SCV003878351 | uncertain significance | Inborn genetic diseases | 2023-02-07 | criteria provided, single submitter | clinical testing | The c.1975G>A (p.V659M) alteration is located in exon 4 (coding exon 4) of the NOD2 gene. This alteration results from a G to A substitution at nucleotide position 1975, causing the valine (V) at amino acid position 659 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |