ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.163-14C>T

gnomAD frequency: 0.02553  dbSNP: rs113745859
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Total submissions: 14
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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 RCV000039379 SCV000063063 benign not specified 2012-05-10 criteria provided, single submitter clinical testing 163-14C>T in intron 2 of TMEM43: This variant is not expected to have clinical s ignificance because it has been identified in 8% (302/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS/; dbSNP rs113745859)
GeneDx RCV000039379 SCV000168987 benign not specified 2013-07-26 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.
Preventiongenetics, part of Exact Sciences RCV000039379 SCV000314284 benign not specified criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000030553 SCV000910880 benign Cardiomyopathy 2018-03-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528438 SCV001157467 benign not provided 2023-09-28 criteria provided, single submitter clinical testing
Invitae RCV002054526 SCV002363830 benign Arrhythmogenic right ventricular dysplasia 5 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490426 SCV002798374 benign Arrhythmogenic right ventricular dysplasia 5; Emery-Dreifuss muscular dystrophy 7, autosomal dominant; Auditory neuropathy, autosomal dominant 3 2021-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030553 SCV000053224 benign Cardiomyopathy 2015-06-02 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528438 SCV001740189 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000039379 SCV001919259 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039379 SCV001926704 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039379 SCV001959157 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039379 SCV001967904 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000030553 SCV003802993 benign Cardiomyopathy 2022-09-23 no assertion criteria provided clinical testing

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