Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000810769 | SCV000951002 | likely benign | CHARGE association | 2023-08-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002487761 | SCV002798235 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396416 | SCV004104903 | uncertain significance | CHD7-related condition | 2023-07-12 | criteria provided, single submitter | clinical testing | The CHD7 c.3047A>G variant is predicted to result in the amino acid substitution p.His1016Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0027% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61735151-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |