Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079980 | SCV000111871 | benign | not specified | 2013-01-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000079980 | SCV000308747 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000079980 | SCV000519839 | benign | not specified | 2016-03-29 | 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. |
Labcorp Genetics |
RCV000549170 | SCV000648313 | benign | Congenital muscular dystrophy due to integrin alpha-7 deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000079980 | SCV001476630 | benign | not specified | 2020-03-31 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004706490 | SCV005232514 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000079980 | SCV000151470 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |