Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197837 | SCV001368617 | likely benign | Pseudohypoparathyroidism type 1B | 2018-10-30 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PP2,BP4,BP7. |
Fulgent Genetics, |
RCV002497679 | SCV002813655 | likely benign | McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A | 2021-12-24 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003227930 | SCV003925244 | uncertain significance | Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudohypoparathyroidism type I A | 2022-07-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004528410 | SCV004104005 | uncertain significance | GNAS-related disorder | 2023-07-27 | criteria provided, single submitter | clinical testing | The GNAS c.1276G>C variant is predicted to result in the amino acid substitution p.Ala426Pro. This variant has been observed in an individual from a cohort of patients with inherited platelet disorders (Table 5, Bastida et al. 2018. PubMed ID: 28983057). This variant is reported in 0.0082% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-57429596-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |