Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000555969 | SCV000659472 | benign | Adams-Oliver syndrome 5 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001563587 | SCV001786560 | uncertain significance | Aortic valve disease 1 | 2020-11-19 | criteria provided, single submitter | clinical testing | The NOTCH1 c.5972G>A (p.Arg1991His) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000165 in the Other population from the Genome Aggregation Database though this is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Arg1991His variant is classified as a variant of uncertain significance for aortic valve disease. |
Genome- |
RCV000555969 | SCV002553320 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563587 | SCV002553321 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV004787900 | SCV005401914 | uncertain significance | not provided | 2024-05-13 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |