Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668922 | SCV000793600 | uncertain significance | Alstrom syndrome | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668922 | SCV001516532 | uncertain significance | Alstrom syndrome | 2022-02-25 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 711 of the ALMS1 protein (p.Thr711Ala). This variant is present in population databases (rs367641723, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 553462). 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. |
Fulgent Genetics, |
RCV000668922 | SCV002796983 | uncertain significance | Alstrom syndrome | 2022-03-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000668922 | SCV002080444 | uncertain significance | Alstrom syndrome | 2021-04-13 | no assertion criteria provided | clinical testing |