Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117763 | SCV000152020 | uncertain significance | not provided | 2013-08-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000250977 | SCV000307367 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250977 | SCV000519544 | benign | not specified | 2016-05-31 | 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. |
Invitae | RCV000552723 | SCV000640823 | benign | Nemaline myopathy 2 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000250977 | SCV000917877 | benign | not specified | 2018-08-06 | criteria provided, single submitter | clinical testing | Variant summary: NEB c.571G>C (p.Glu191Gln) results in a conservative amino acid change located in the Nebulin repeat region of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.016 in 276052 control chromosomes in the gnomAD database, including 81 homozygotes. The observed variant frequency is approximately 4.65 fold of the estimated maximal expected allele frequency for a pathogenic variant in NEB causing Nemaline Myopathy 2 phenotype (0.0035), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.571G>C in individuals affected with Nemaline Myopathy 2 and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from other clinical diagnostic laboratories (evaluation after 2014) cites variant as "benign." Based on the evidence outlined above, the variant was classified as benign. |
Illumina Clinical Services Laboratory, |
RCV000552723 | SCV001295501 | benign | Nemaline myopathy 2 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Athena Diagnostics Inc | RCV000250977 | SCV001476699 | benign | not specified | 2020-01-24 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000552723 | SCV001457275 | benign | Nemaline myopathy 2 | 2020-06-08 | no assertion criteria provided | clinical testing |