Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825310 | SCV000966605 | uncertain significance | not specified | 2018-10-31 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ile2232Val va riant in CHD7 has been previously reported in 1 individual with isolated gonado tropin-releasing hormone deficiency (Balasubramanian 2014), and it has also been identified in 0.018% (4/21382) of Latino chromosomes by gnomAD (http://gnomad.b roadinstitute.org). The isoleucine at position 2232 is not conserved through spe cies with over 10 mammals carrying a valine (Val) at this position. However, an in vivo rescue study performed in zebrafish suggested that this variant may have a partial loss of function impact. However, this assay may not accurately repre sent biological function. In summary, while the clinical significance of this va riant is uncertain, the conservation data suggest that it is more likely to be b enign. BP4_Strong, PS3_Supporting. |
Invitae | RCV001056258 | SCV001220692 | benign | CHARGE association | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495188 | SCV002778456 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-04-30 | criteria provided, single submitter | clinical testing |