Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000276229 | SCV000334076 | uncertain significance | not provided | 2018-04-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002059111 | SCV002442887 | likely benign | Hajdu-Cheney syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002519113 | SCV003540293 | uncertain significance | Inborn genetic diseases | 2022-12-14 | criteria provided, single submitter | clinical testing | The c.6362A>G (p.K2121R) alteration is located in exon 34 (coding exon 34) of the NOTCH2 gene. This alteration results from a A to G substitution at nucleotide position 6362, causing the lysine (K) at amino acid position 2121 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |