Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000346937 | SCV000446777 | likely benign | Beta-D-mannosidosis | 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. |
Labcorp Genetics |
RCV000346937 | SCV002363755 | benign | Beta-D-mannosidosis | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000675786 | SCV005260268 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000675786 | SCV000801507 | benign | not provided | 2017-05-31 | no assertion criteria provided | clinical testing |