Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155615 | SCV000205323 | benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | The 9510+13C>T variant in intron 67 of CDH23: This variant is not expected to ha ve clinical significance because it has been identified in 8% (16/192) of Africa n chromosomes by the 1000 Genome Project (dbSNP rs183692794). |
Prevention |
RCV000155615 | SCV000314005 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000346745 | SCV000483087 | likely benign | Combined PSAP deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000380976 | SCV000483088 | likely benign | Atypical Gaucher Disease | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000286477 | SCV000483089 | likely benign | Galactosylceramide beta-galactosidase deficiency | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000341426 | SCV000483090 | likely benign | Metachromatic leukodystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001106215 | SCV001263255 | likely benign | Autosomal recessive nonsyndromic hearing loss 12 | 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, |
RCV001106216 | SCV001263256 | benign | Usher syndrome type 1D | 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Invitae | RCV001520244 | SCV001729305 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001106216 | SCV001750283 | benign | Usher syndrome type 1D | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001106215 | SCV001750284 | benign | Autosomal recessive nonsyndromic hearing loss 12 | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001520244 | SCV004126757 | benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CDH23: BS1, BS2 |
Natera, |
RCV001276930 | SCV001463587 | benign | Usher syndrome type 1 | 2020-09-16 | no assertion criteria provided | clinical testing |