Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Deafness research group, |
RCV000172829 | SCV000223794 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2012-12-12 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000172829 | SCV000793800 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 1A | 2017-11-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000909190 | SCV001053985 | likely benign | not provided | 2024-01-18 | criteria provided, single submitter | clinical testing | |
INGEBI, |
RCV001257045 | SCV001433596 | uncertain significance | Nonsyndromic genetic hearing loss | 2020-08-31 | criteria provided, single submitter | clinical testing | Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: the filtering allele frequency of the c.24G>A, p.(Thr8=) variant in GJB2 gene is 0,0056% (5/34592 Latino alleles with 95%CI) from Genome Aggregation Database (http://gnomad.broadinstitute.org; calculated by using inverse allele frequency at https://www.cardiodb.org/allelefrequencyapp/) which meets the criteria to apply to PM2 criteria. This variant has been identified twice in heterozygous state (PMID: 23668481, 24158611). A potential alteration of splicing was predicted by Human Splicing Finder system and Mutation Tester software applying to PP3 rule. In summary, the clinical significance of this variant is currently uncertain (PM2, PP3). |
Gene |
RCV000909190 | SCV001865016 | likely benign | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 33096615, 23668481, 24158611, 30245029) |
Natera, |
RCV000172829 | SCV002086073 | likely benign | Autosomal recessive nonsyndromic hearing loss 1A | 2020-02-17 | no assertion criteria provided | clinical testing |