Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000518624 | SCV000613515 | uncertain significance | not specified | 2017-05-10 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000587927 | SCV000698249 | uncertain significance | not provided | 2016-05-23 | criteria provided, single submitter | clinical testing | Variant summary: The GJB2 c.358G>A (p.Glu120Lys) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index); however, functional studies had not been published at the time of classification to confirm these in silico predictions. This variant was found in 4/121052 control chromosomes at a frequency of 0.000033, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). The variant was observed in 2 patients from the literature without significant evidence of causality (i.e. co-segregation data). The variant had not been classified by other clinical labs, but was reported as a pathogenic variant by one database without evidence to independently evaluate. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Counsyl | RCV000666427 | SCV000790718 | uncertain significance | Deafness, autosomal recessive 1A | 2017-04-05 | criteria provided, single submitter | clinical testing |