Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000377732 | SCV000339634 | likely pathogenic | not provided | 2016-02-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000988818 | SCV001138703 | likely pathogenic | Stickler syndrome type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
3billion | RCV003152704 | SCV003841311 | pathogenic | Spondyloperipheral dysplasia | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.99; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000286275). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |