Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000700837 | SCV000829610 | benign | CHARGE association | 2022-12-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003151808 | SCV003840550 | uncertain significance | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Preventiongenetics, |
RCV003392537 | SCV004119560 | uncertain significance | CHD7-related condition | 2023-06-27 | criteria provided, single submitter | clinical testing | The CHD7 c.1703C>T variant is predicted to result in the amino acid substitution p.Pro568Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0073% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-61693596-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |