Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000950311 | SCV001096608 | likely benign | Trichorhinophalangeal syndrome, type III; Trichorhinophalangeal dysplasia type I | 2024-12-05 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430947 | SCV004158378 | benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TRPS1: BS1, BS2 |
Ambry Genetics | RCV004022066 | SCV004972333 | likely benign | Inborn genetic diseases | 2021-09-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV004530465 | SCV004739776 | likely benign | TRPS1-related disorder | 2019-05-23 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |