Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UCLA Clinical Genomics Center, |
RCV000198715 | SCV000255320 | likely pathogenic | Joubert syndrome 3 | 2012-11-20 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000132677 | SCV000281530 | benign | not provided | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000249126 | SCV000312888 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000198715 | SCV000460476 | likely benign | Joubert syndrome 3 | 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV000304449 | SCV000634568 | benign | Joubert syndrome | 2021-12-13 | criteria provided, single submitter | clinical testing | |
Eurofins NTD LLC |
RCV000249126 | SCV000702284 | benign | not specified | 2016-11-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000132677 | SCV000728493 | benign | not provided | 2021-03-30 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24690944, 27491411, 29343940, 22995991, 25356976, 21228398, 18054307, 26035799, 26035800, 22425360, 28976722, 28391287, 25326637, 31938409) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000249126 | SCV002103920 | likely benign | not specified | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Molecular Genetics, |
RCV000198715 | SCV002503690 | benign | Joubert syndrome 3 | 2021-10-04 | criteria provided, single submitter | clinical testing | East Asian population allele frequency is 4.5% (rs148000791, 874/19,504 alleles, 22 homozygotes in gnomAD v2.1). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1 |
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000132677 | SCV000172629 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Diagnostic Laboratory, |
RCV000198715 | SCV000734478 | likely benign | Joubert syndrome 3 | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000249126 | SCV001925182 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000249126 | SCV001977852 | benign | not specified | no assertion criteria provided | clinical testing |