Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000036066 | SCV000059718 | likely benign | not specified | 2015-01-22 | criteria provided, single submitter | clinical testing | p.Arg623His in exon 16 of MYO7A: This variant is not expected to have clinical significance because it has been identified in 0.325% (26/7988) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; rs111033416). Although this variant has been reported in the heterozygous state in one individual with retinal dystrophy (Watson 2014) and in three indiv iduals with hearing loss by our laboratory, the population frequency indicates t hat it is likely benign. |
Counsyl | RCV000664583 | SCV000788571 | likely benign | Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000933794 | SCV001079503 | likely benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000933794 | SCV001812160 | uncertain significance | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | Identified in a patient with retinitis pigmentosa in published literature who harbored a homozygous pathogenic variant in BBS2 which the authors considered to be causative (Watson et al., 2014); Identified in a patient with hearing loss in published literature; no specific details on the patient are provided (Iwasa et al., 2016); This variant is associated with the following publications: (PMID: 27911912, 25133751) |
Revvity Omics, |
RCV000933794 | SCV003817848 | uncertain significance | not provided | 2021-10-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276681 | SCV001463189 | likely benign | Usher syndrome type 1B | 2020-04-16 | no assertion criteria provided | clinical testing |