Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173825 | SCV000224980 | likely benign | not specified | 2015-03-05 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000420793 | SCV000511050 | likely benign | not provided | 2016-12-30 | criteria provided, single submitter | clinical testing | Converted during submission from Likely Benign to Likely benign. |
Labcorp Genetics |
RCV001082453 | SCV000773987 | likely benign | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2025-01-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000173825 | SCV002065619 | likely benign | not specified | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000420793 | SCV005260485 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Ambry Genetics | RCV004965292 | SCV005494409 | likely benign | Inborn genetic diseases | 2024-08-26 | 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV000420793 | SCV001798340 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000420793 | SCV001967798 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000420793 | SCV001978183 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004539603 | SCV004796291 | benign | SDCCAG8-related disorder | 2019-06-19 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |