Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000152765 | SCV000202153 | benign | not specified | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000152765 | SCV000268977 | benign | not specified | 2014-11-26 | criteria provided, single submitter | clinical testing | This is a RefSeq error. The reference base (c.8810G) is the minor allele. This a llele (G) has been identified in 6% (409/6728) of European American chromosomes and 1% (47/3833) of African American chromosomes by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS/; dbSNP rs1800280) and thus meets crite ria to be classified as benign. |
ARUP Laboratories, |
RCV001812126 | SCV000603330 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990591 | SCV001141606 | benign | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000990591 | SCV001717154 | benign | Duchenne muscular dystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001657863 | SCV001876783 | benign | Dilated cardiomyopathy 3B | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000990591 | SCV001876785 | benign | Duchenne muscular dystrophy | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000152765 | SCV001743782 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000152765 | SCV001917000 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000152765 | SCV001932782 | benign | not specified | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001831945 | SCV002080236 | benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2017-04-20 | no assertion criteria provided | clinical testing |