Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554343 | SCV000631245 | likely benign | CHARGE association | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV001027816 | SCV001190433 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2021-03-30 | criteria provided, single submitter | clinical testing | CHD7 NM_017780.3 exon 12 p.Ile1022Val (c.3064A>G): This variant has not been reported in the literature but is present in 0.003% (5/128332) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/8-61735168-A-G). This variant is present in ClinVar (Variation ID:459545). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Fulgent Genetics, |
RCV001027816 | SCV002781264 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-05-09 | criteria provided, single submitter | clinical testing |