Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000396762 | SCV000403489 | likely benign | MAPT-Related Spectrum Disorders | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Invitae | RCV002514503 | SCV003251838 | likely benign | Frontotemporal dementia | 2022-10-24 | criteria provided, single submitter | clinical testing | |
VIB Department of Molecular Genetics, |
RCV000084528 | SCV000116664 | not provided | not provided | no assertion provided | not provided |