Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001751511 | SCV001986735 | uncertain significance | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome |
RCV001249329 | SCV001423295 | not provided | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 10-23-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |