Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176764 | SCV000228476 | uncertain significance | not provided | 2014-10-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000623921 | SCV000742726 | uncertain significance | Inborn genetic diseases | 2017-10-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492763 | SCV002782559 | uncertain significance | Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000176764 | SCV003521669 | uncertain significance | not provided | 2022-08-14 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1058 of the CDH23 protein (p.Leu1058Val). This variant is present in population databases (rs748462315, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 196040). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV001272554 | SCV001454646 | uncertain significance | Usher syndrome type 1 | 2020-01-24 | no assertion criteria provided | clinical testing |