Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462592 | SCV000548941 | benign | Adams-Oliver syndrome 5 | 2022-09-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002523316 | SCV003742080 | uncertain significance | Inborn genetic diseases | 2022-05-27 | criteria provided, single submitter | clinical testing | The c.6949G>A (p.G2317S) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6949, causing the glycine (G) at amino acid position 2317 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |