Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549664 | SCV000659417 | likely benign | Adams-Oliver syndrome 5 | 2023-05-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003278920 | SCV003955923 | uncertain significance | Inborn genetic diseases | 2023-03-29 | criteria provided, single submitter | clinical testing | The c.3034G>A (p.G1012S) alteration is located in exon 19 (coding exon 19) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 3034, causing the glycine (G) at amino acid position 1012 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |