Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806474 | SCV000946477 | benign | CHARGE association | 2023-06-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507397 | SCV002816432 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003411780 | SCV004113916 | uncertain significance | CHD7-related condition | 2022-10-03 | criteria provided, single submitter | clinical testing | The CHD7 c.7097T>C variant is predicted to result in the amino acid substitution p.Leu2366Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0034% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61768694-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |