Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728854 | SCV000856472 | uncertain significance | not provided | 2017-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002535096 | SCV003585756 | uncertain significance | Inborn genetic diseases | 2021-11-12 | criteria provided, single submitter | clinical testing | The c.5172C>G (p.H1724Q) alteration is located in exon 28 (coding exon 28) of the NOTCH2 gene. This alteration results from a C to G substitution at nucleotide position 5172, causing the histidine (H) at amino acid position 1724 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |