Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155247 | SCV000204933 | benign | not specified | 2017-07-05 | criteria provided, single submitter | clinical testing | p.Val508Ala in exon 14 of OTOA: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote 8 mammals have an alanine (Ala) at this position despite high nearby amino a cid conservation. In addition, computational analyses do not suggest a high like lihood of impact to the protein. This variant has been identified in 1% (110/101 40) of Ashkenazi Jewish chromosomes including 1 homozygote by the Genome Aggrega tion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138141474). |
Gene |
RCV000842420 | SCV000984440 | benign | not provided | 2019-11-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000842420 | SCV002395496 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Division of Human Genetics, |
RCV000477863 | SCV000536824 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 22 | 2015-11-03 | no assertion criteria provided | research |