Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156208 | SCV000205924 | benign | not specified | 2020-09-22 | criteria provided, single submitter | clinical testing | The p.Asp6431Tyr variant in TTN is classified as benign because it has been identified in 1.0% (340/30592) of South Asian chromosomes, including 3 homozygotes, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1. |
Gene |
RCV000156208 | SCV000238325 | benign | not specified | 2016-07-19 | 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. |
Ambry Genetics | RCV000248812 | SCV000318495 | uncertain significance | Cardiovascular phenotype | 2013-03-06 | criteria provided, single submitter | clinical testing | There is insufficient or conflicting evidence for classification of this alteration. |
Eurofins Ntd Llc |
RCV000156208 | SCV000334926 | benign | not specified | 2015-09-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083518 | SCV000642828 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000713993 | SCV000844649 | benign | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001130359 | SCV001289933 | benign | Early-onset myopathy with fatal cardiomyopathy | 2018-01-22 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV001130360 | SCV001289934 | benign | Dilated cardiomyopathy 1G | 2018-01-22 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV001135405 | SCV001295182 | benign | Tibial muscular dystrophy | 2018-01-22 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV001135406 | SCV001295183 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-01-22 | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Illumina Laboratory Services, |
RCV001135407 | SCV001295184 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2018-01-22 | 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
CHEO Genetics Diagnostic Laboratory, |
RCV003486706 | SCV004239856 | benign | Cardiomyopathy | 2022-11-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713993 | SCV005074512 | benign | not provided | 2024-06-01 | criteria provided, single submitter | clinical testing | TTN: BS1, BS2 |