Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000077944 | SCV000109773 | benign | not specified | 2012-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000077944 | SCV000301561 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000394488 | SCV000448736 | benign | Aspartylglucosaminuria | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000077944 | SCV000538240 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000394488 | SCV000744998 | benign | Aspartylglucosaminuria | 2017-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675818 | SCV000971127 | benign | not provided | 2018-06-13 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Mendelics | RCV000394488 | SCV001136793 | benign | Aspartylglucosaminuria | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000394488 | SCV001723558 | benign | Aspartylglucosaminuria | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000394488 | SCV001762524 | benign | Aspartylglucosaminuria | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000675818 | SCV005304495 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000394488 | SCV000734328 | benign | Aspartylglucosaminuria | no assertion criteria provided | clinical testing | ||
Mayo Clinic Laboratories, |
RCV000675818 | SCV000801540 | benign | not provided | 2015-10-22 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000394488 | SCV001457094 | benign | Aspartylglucosaminuria | 2020-09-16 | no assertion criteria provided | clinical testing |