Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV001449705 | SCV001652961 | uncertain significance | not specified | 2021-01-05 | criteria provided, single submitter | clinical testing | The p.Ser65Arg variant in BCSL1 has not been previously reported in individuals with Bjornstad syndrome but has been identified in 0.017% (6/35438) of Latino/Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: PM2_Supporting, BP4. |
Fulgent Genetics, |
RCV002476767 | SCV002780581 | uncertain significance | Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001832578 | SCV002076345 | uncertain significance | GRACILE syndrome | 2021-01-19 | no assertion criteria provided | clinical testing |