Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036416 | SCV000060071 | benign | not specified | 2009-08-18 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000265909 | SCV000466074 | likely benign | Pendred syndrome | 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, |
RCV000304663 | SCV000466075 | likely benign | Autosomal recessive nonsyndromic hearing loss 4 | 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. |
Gene |
RCV001668153 | SCV001889778 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000265909 | SCV001455789 | benign | Pendred syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |