Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000454671 | SCV000539945 | 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 |
Gene |
RCV000675566 | SCV001866763 | benign | not provided | 2019-08-20 | criteria provided, single submitter | clinical testing | |
Al Jalila Children's Genomics Center, |
RCV000614613 | SCV001984522 | benign | Niemann-Pick disease, type C1 | 2020-04-21 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000614613 | SCV000733760 | benign | Niemann-Pick disease, type C1 | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000614613 | SCV000743483 | benign | Niemann-Pick disease, type C1 | 2016-06-06 | flagged submission | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000614613 | SCV000745702 | benign | Niemann-Pick disease, type C1 | 2016-10-13 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000614613 | SCV000745704 | benign | Niemann-Pick disease, type C1 | 2017-01-06 | no assertion criteria provided | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675566 | SCV000801257 | benign | not provided | 2015-10-26 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000614613 | SCV001455867 | benign | Niemann-Pick disease, type C1 | 2020-09-16 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000454671 | SCV001799559 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000454671 | SCV001932309 | benign | not specified | no assertion criteria provided | clinical testing |