Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000714122 | SCV000114502 | uncertain significance | not provided | 2013-07-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000714122 | SCV000616937 | likely benign | not provided | 2020-10-30 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Athena Diagnostics | RCV000714122 | SCV000844797 | uncertain significance | not provided | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000714122 | SCV003819676 | uncertain significance | not provided | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000709826 | SCV000840155 | not provided | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 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. |