Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000153183 | SCV000309678 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
EGL Genetic Diagnostics, |
RCV000153183 | SCV000332041 | benign | not specified | 2015-07-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153183 | SCV000512918 | likely benign | not specified | 2018-03-06 | 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. |
Athena Diagnostics Inc | RCV000658868 | SCV000613205 | benign | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000509353 | SCV000649673 | benign | Qualitative or quantitative defects of dysferlin | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000658868 | SCV000780667 | likely benign | not provided | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000681611 | SCV001135888 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV001137897 | SCV001297889 | uncertain significance | DYSF-Related Disorders | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
OMIM | RCV000007049 | SCV000027245 | pathogenic | Miyoshi muscular dystrophy 1 | 1998-09-01 | no assertion criteria provided | literature only | |
Genome |
RCV000509353 | SCV000606886 | not provided | Qualitative or quantitative defects of dysferlin | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
OMIM | RCV000681611 | SCV000809051 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 1998-09-01 | no assertion criteria provided | literature only |