Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000386313 | SCV000441963 | likely benign | Sucrase-isomaltase deficiency | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV001515644 | SCV001723764 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001530159 | SCV001744893 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001530159 | SCV001958200 | benign | not specified | no assertion criteria provided | clinical testing |