Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000154008 | SCV000203636 | benign | not specified | 2012-09-14 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000154008 | SCV000269882 | benign | not specified | 2014-11-26 | criteria provided, single submitter | clinical testing | This is a RefSeq error. The reference base (c.795T) is the minor allele. This al lele (T) has been identified in 8.4% (48/572) of Eastern Asian chromosomes by th e 1000 Genomes Project (dbSNP rs890868) and thus meets criteria to be classified as benign. |
Invitae | RCV001514214 | SCV001722009 | benign | Nemaline myopathy 5 | 2024-02-01 | criteria provided, single submitter | clinical testing |