Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000177147 | SCV000228978 | likely benign | not specified | 2014-10-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000177147 | SCV000308700 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000576305 | SCV000403340 | likely benign | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 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. |
Ce |
RCV000513109 | SCV000608819 | likely benign | not provided | 2024-07-01 | criteria provided, single submitter | clinical testing | GRN: BP4, BS2 |
Athena Diagnostics | RCV000576305 | SCV000677378 | benign | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001086378 | SCV000772101 | benign | GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513109 | SCV001819462 | likely benign | not provided | 2020-01-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000513109 | SCV005212866 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Mayo Clinic Laboratories, |
RCV000513109 | SCV000801379 | likely benign | not provided | 2017-06-07 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000513109 | SCV001806997 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000177147 | SCV001919084 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000513109 | SCV001974821 | likely benign | not provided | no assertion criteria provided | clinical testing |