Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081118 | SCV000113026 | benign | not specified | 2013-04-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000081118 | SCV000307297 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000305612 | SCV000416852 | benign | Nemaline Myopathy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000081118 | SCV000568088 | benign | not specified | 2016-02-03 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589830 | SCV000697812 | benign | not provided | 2017-02-27 | criteria provided, single submitter | clinical testing | Variant summary: c.21523-6dupA in NEB gene is an intronic change that involves a mildly conserved nucleotide. 3/5 programs in Alamut predict that this variant does not have significant effect on the normal splicing pattern, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at a frequency of 0.6045 (49666 /82164chrs tested), including numerous homozygotes across multiple populations. The observed frequency exceed the maximum expected allele frequency for a pathogenic variant of 0.0035. The variant of interest has not, to our knowledge, been reported in affected individuals in published reports but cited as Benign by reputable databases/clinical laboratories. Considering all, the variant was classified as Benign. |
Athena Diagnostics | RCV000589830 | SCV001144714 | benign | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001276766 | SCV001716702 | benign | Nemaline myopathy 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001276766 | SCV001463294 | benign | Nemaline myopathy 2 | 2020-09-16 | no assertion criteria provided | clinical testing |