Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703567 | SCV000517108 | likely benign | not provided | 2021-01-18 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25146735, 23692737, 24618965, 25834947) |
Labcorp Genetics |
RCV001085772 | SCV000627263 | benign | Osteogenesis imperfecta type I | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000659364 | SCV000781175 | likely benign | Connective tissue disorder | 2016-11-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001703567 | SCV000885214 | likely benign | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001123187 | SCV001281997 | likely benign | Infantile cortical hyperostosis | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Laboratory Services, |
RCV001123188 | SCV001281998 | benign | Osteogenesis imperfecta | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001127266 | SCV001286558 | benign | Ehlers-Danlos syndrome, arthrochalasia type | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Genome Diagnostics Laboratory, |
RCV001123188 | SCV002564737 | likely benign | Osteogenesis imperfecta | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002278663 | SCV002565533 | likely benign | Ehlers-Danlos syndrome | 2021-12-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328934 | SCV002629450 | likely benign | Cardiovascular phenotype | 2019-03-21 | 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. |
Ce |
RCV001703567 | SCV004699260 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | COL1A1: BP4, BS1 |
Breakthrough Genomics, |
RCV001703567 | SCV005218115 | likely benign | not provided | criteria provided, single submitter | not provided |