Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325975 | SCV001516987 | uncertain significance | Alstrom syndrome | 2022-07-19 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 1025636). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 2563 of the ALMS1 protein (p.Ser2563Arg). |
Fulgent Genetics, |
RCV001325975 | SCV002813367 | uncertain significance | Alstrom syndrome | 2021-10-28 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001325975 | SCV002082881 | uncertain significance | Alstrom syndrome | 2020-07-29 | no assertion criteria provided | clinical testing |