Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000455902 | SCV000539832 | uncertain significance | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.1% East Asian ExAC, 2 homozygotes, not in ClinVar. Cai 2011 reported the variant in 3/21 Jpanese patients with inclusion body myositis. Clinical features of IBM include adult-onset weakness of proximal or distal muscle and normal or slightly elevated serum creatine kinase (CK) level. This variant has not been associated with myopathy ith external ophthalmoplegia. Therefore, despite of the classification of the variant, I do not think the disease meets criteria for reporting in BabySeq. |
Invitae | RCV000490432 | SCV000641379 | benign | Myopathy, proximal, and ophthalmoplegia | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000490432 | SCV001140297 | uncertain significance | Myopathy, proximal, and ophthalmoplegia | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000490432 | SCV001275564 | benign | Myopathy, proximal, and ophthalmoplegia | 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign. |
Gene |
RCV001723786 | SCV001950557 | benign | not provided | 2019-08-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22349865, 27066573) |
Soonchunhyang University Bucheon Hospital, |
RCV000490432 | SCV000267408 | likely pathogenic | Myopathy, proximal, and ophthalmoplegia | 2016-03-18 | flagged submission | reference population |