Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000114245 | SCV000147803 | benign | not specified | 2013-08-02 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000114245 | SCV000227859 | benign | not specified | 2015-04-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000114245 | SCV000316332 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Center for Pediatric Genomic Medicine, |
RCV000419164 | SCV000510638 | likely benign | not provided | 2016-07-22 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000419164 | SCV000517164 | likely benign | not provided | 2020-03-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000419164 | SCV000892858 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TMEM67: BP4, BS2 |
Invitae | RCV001079645 | SCV001000731 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001163245 | SCV001325265 | likely benign | Joubert syndrome 6 | 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, |
RCV001163246 | SCV001325266 | uncertain significance | Meckel syndrome, type 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001163247 | SCV001325267 | uncertain significance | Nephronophthisis 11 | 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |