Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV001261881 | SCV001245053 | likely pathogenic | Acromesomelic dysplasia 1, Maroteaux type | 2020-04-27 | criteria provided, single submitter | clinical testing | Two affected siblings with short-limbed short stature were assessed for mutations in the NPR2 gene and a homozygous variant NM_003995.4: c.1673T>C (p.Ile558Thr) in NPR2 was detected using gene sequencing. This variant has been previously described in patients with familiar short stature and heterozygous NPR2 variants have been reported to be associated with short stature (Plachy et al., 2020). Furthermore, this variant is classified as likely pathogenic according to the ACMG guidelines. |
Invitae | RCV001302840 | SCV001492064 | uncertain significance | Acromesomelic dysplasia 1, Maroteaux type; Tall stature-scoliosis-macrodactyly of the great toes syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Lupski Lab, |
RCV001261881 | SCV002546518 | likely pathogenic | Acromesomelic dysplasia 1, Maroteaux type | 2022-06-07 | criteria provided, single submitter | research |