Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000604357 | SCV000713795 | uncertain significance | not specified | 2018-01-09 | criteria provided, single submitter | clinical testing | The p.Lys2025Thr variant in ALMS1 has not been previously reported in individual s with hearing loss, but has been identified in 3/30778 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; db SNP rs369339997). Computational prediction tools and conservation analyses do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of the p.Lys2023Thr variant is uncertain. ACMG/AMP Crite ria applied: none. |
Natera, |
RCV001835878 | SCV002082817 | uncertain significance | Alstrom syndrome | 2019-10-28 | no assertion criteria provided | clinical testing |