Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253099 | SCV001428630 | pathogenic | Rahman syndrome | 2021-10-19 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1_STR, PS2, PM2_SUP, PS4_MOD |
Gene |
RCV002276670 | SCV002567500 | pathogenic | not provided | 2022-02-15 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 97 amino acids are replaced with 72 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31400068) |
Gene |
RCV001253099 | SCV001468679 | not provided | Rahman syndrome | no assertion provided | literature only | ||
Genome |
RCV002508301 | SCV002818106 | not provided | HIST1H1E-related neurodevelopmental disorder with multiple anomalies | no assertion provided | phenotyping only | Variant classified as Pathogenic and reported on 02-22-2022 by Lab or GTR ID 26957. GenomeConnect-HIST1H1E assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. |