Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037969 | SCV000061635 | benign | not specified | 2015-06-29 | criteria provided, single submitter | clinical testing | 1183+9A>T in intron 8 of DFNA5: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (214/16490) of South Asian chr omosomes by the Exome Aggregation Consortium and it is not located within the sp lice consensus sequence (ExAC, http://exac.broadinstitute.org; dbSNP rs397516910 ). |
Illumina Laboratory Services, |
RCV000287752 | SCV000468396 | likely benign | Autosomal dominant nonsyndromic hearing loss 5 | 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 |
RCV000037969 | SCV000718099 | likely benign | not specified | 2018-02-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000897998 | SCV001042180 | benign | not provided | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003924922 | SCV004746426 | likely benign | GSDME-related condition | 2019-11-07 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |