Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154933 | SCV000204615 | benign | not specified | 2018-11-09 | criteria provided, single submitter | clinical testing | proposed classification - variant undergoing re-assessment, contact laboratory |
Gene |
RCV000726451 | SCV000236870 | benign | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24980681, 31402444, 23299917, 21810661, 25157032, 26187847, 25214167) |
Ambry Genetics | RCV000243930 | SCV000318746 | benign | Cardiovascular phenotype | 2020-05-29 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |
Eurofins Ntd Llc |
RCV000726451 | SCV000344727 | uncertain significance | not provided | 2016-09-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086769 | SCV000555153 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000726451 | SCV001146456 | benign | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726451 | SCV001152819 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TTN: BS2 |
Illumina Laboratory Services, |
RCV001133876 | SCV001293590 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001133877 | SCV001293591 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-04-28 | 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. |
Illumina Laboratory Services, |
RCV001133878 | SCV001293592 | uncertain significance | Early-onset myopathy with fatal cardiomyopathy | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001133879 | SCV001293593 | uncertain significance | Dilated cardiomyopathy 1G | 2017-04-28 | 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001133880 | SCV001293594 | benign | Tibial muscular dystrophy | 2017-04-28 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170815 | SCV001333433 | benign | Cardiomyopathy | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Genetics and Genomics Program, |
RCV001293232 | SCV001434231 | uncertain significance | Primary dilated cardiomyopathy | criteria provided, single submitter | research | ||
Practice for Gait Abnormalities, |
RCV001358656 | SCV001548559 | uncertain significance | Tip-toe gait | 2020-11-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154933 | SCV003934106 | likely benign | not specified | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000154933 | SCV001921537 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000726451 | SCV001954026 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000726451 | SCV001968326 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000726451 | SCV001978143 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000726451 | SCV002035993 | likely benign | not provided | no assertion criteria provided | clinical testing |