ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.53-11_53-7del

dbSNP: rs45533739
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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036600 SCV000060255 benign not specified 2006-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000036600 SCV000209214 benign not specified 2013-09-25 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.
Eurofins Ntd Llc (ga) RCV000036600 SCV000230138 benign not specified 2015-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000036600 SCV000305598 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330905 SCV000353368 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385533 SCV000353369 likely benign Familial restrictive cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291224 SCV000353370 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327238 SCV000353371 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000646080 SCV000767837 benign Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775982 SCV000910503 benign Cardiomyopathy 2018-03-09 criteria provided, single submitter clinical testing
Mendelics RCV000986505 SCV001135518 benign Hypertrophic cardiomyopathy 2 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811245 SCV001158897 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000775982 SCV001333864 benign Cardiomyopathy 2019-04-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838532 SCV002098610 benign Dilated cardiomyopathy 1D 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001838533 SCV002098611 benign Cardiomyopathy, familial restrictive, 3 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986505 SCV002098612 benign Hypertrophic cardiomyopathy 2 2021-09-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000036600 SCV001740498 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000036600 SCV001932432 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036600 SCV001958870 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000036600 SCV001967097 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000775982 SCV003803066 benign Cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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