Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081464 | SCV000113395 | benign | not specified | 2013-02-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000757546 | SCV000518727 | likely benign | not provided | 2019-11-05 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15947064) |
Invitae | RCV001086003 | SCV000761570 | likely benign | Myofibrillar myopathy 3 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757546 | SCV000885811 | likely benign | not provided | 2018-05-27 | criteria provided, single submitter | clinical testing | The p.Ala115Thr variant (rs114194130) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.2 percent in the Latino population (identified on 62 out of 34,292 chromosomes) and has been reported to the ClinVar database (Variation ID: 95439). The alanine at position 115 is weakly conserved considering 12 species (Alamut v2.11) and computational analyses of the p.Ala115Thr variant on protein structure and function indicates a neutral effect (SIFT: tolerated, PolyPhen-2: benign). Based on these observations, the p.Ala115Thr variant is likely to be benign. |
Illumina Laboratory Services, |
RCV001086003 | SCV001312650 | likely benign | Myofibrillar myopathy 3 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Prevention |
RCV003905063 | SCV004723322 | likely benign | MYOT-related disorder | 2022-02-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |