Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000960539 | SCV001107530 | likely benign | Desbuquois dysplasia 1 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553443 | SCV001774313 | likely benign | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31589614, 30919572, 24581741, 28462984, 27881841) |
Fulgent Genetics, |
RCV002490770 | SCV002795567 | likely benign | Autosomal recessive inherited pseudoxanthoma elasticum; Desbuquois dysplasia 2 | 2021-11-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001553443 | SCV004699192 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | XYLT1: BP4, BS2 |
OMIM | RCV000115037 | SCV000148946 | pathogenic | Desbuquois dysplasia 2 | 2014-03-06 | no assertion criteria provided | literature only | |
Reproductive Health Research and Development, |
RCV000115037 | SCV001142462 | uncertain significance | Desbuquois dysplasia 2 | 2020-01-06 | no assertion criteria provided | curation | NG_015843.1(NM_022166.3):c.1588-3C>T in XYLT1 gene has an allele frequency of 0.006 in Ashkenazi Jewish subpopulation in the gnomAD database. 3 homozygous occurrences are observed in the gnomAD database. This variant has been detected in an individual with Desbuquois dysplasia 2 (PMID: 24581741). Benign computational verdict because benign prediction from DANN. The available evidence is currently insufficient to determine the role of this variant in disease. We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP3; PP4. |
Laboratory of Diagnostic Genome Analysis, |
RCV001553443 | SCV001979852 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001553443 | SCV001980463 | likely benign | not provided | no assertion criteria provided | clinical testing |