Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000039949 | SCV000055054 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000039949 | SCV000063640 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ile5763Phe in exon 69 of TTN: This variant is not expected to have clinical sign ificance because it has been identified in 1.5% (48/3130) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs114626713) |
Gene |
RCV000039949 | SCV000169612 | benign | not specified | 2013-04-08 | 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. |
Labcorp Genetics |
RCV001081389 | SCV000286496 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000039949 | SCV000709115 | benign | not specified | 2017-06-05 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000039949 | SCV000844638 | benign | not specified | 2024-10-16 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001136095 | SCV001295913 | benign | Dilated cardiomyopathy 1G | 2017-06-12 | 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, |
RCV001136096 | SCV001295914 | benign | Tibial muscular dystrophy | 2017-06-12 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001136097 | SCV001295915 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2017-06-12 | 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign. |
Illumina Laboratory Services, |
RCV001136098 | SCV001295916 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Illumina Laboratory Services, |
RCV001136099 | SCV001295917 | likely benign | Early-onset myopathy with fatal cardiomyopathy | 2017-06-12 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000039949 | SCV001442554 | likely benign | not specified | 2020-10-17 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000713983 | SCV001474112 | likely benign | not provided | 2019-12-09 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486573 | SCV004239851 | benign | Cardiomyopathy | 2023-05-01 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000039949 | SCV001917163 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039949 | SCV001953943 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000039949 | SCV001969692 | benign | not specified | no assertion criteria provided | clinical testing |