Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521283 | SCV000621069 | uncertain significance | not provided | 2023-08-02 | criteria provided, single submitter | clinical testing | Has been observed multiple times in cis with p.(P509L) in patients with hearing loss referred to GeneDx for genetic testing; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory for Molecular Medicine, |
RCV001195197 | SCV001365503 | likely benign | not specified | 2017-08-23 | criteria provided, single submitter | clinical testing | p.Gly520Gly in exon 7 of ILDR1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.07% (4/5800) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs369318229). |
Invitae | RCV000521283 | SCV002432058 | likely benign | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing |