Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804334 | SCV000944238 | benign | Adams-Oliver syndrome 5 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002534779 | SCV003737658 | uncertain significance | Inborn genetic diseases | 2022-04-07 | criteria provided, single submitter | clinical testing | The c.382C>T (p.R128C) alteration is located in exon 3 (coding exon 3) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 382, causing the arginine (R) at amino acid position 128 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |