ClinVar Miner

Submissions for variant NM_004085.4(TIMM8A):c.-6C>T

gnomAD frequency: 0.00726  dbSNP: rs180806413
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152015 SCV000168968 benign not specified 2014-03-20 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152015 SCV000200584 benign not specified 2012-04-30 criteria provided, single submitter clinical testing -6C>T in Exon 01 of TIMM8A: This variant is not expected to have clinical signif icance because it has been identified in 1.0% (58/5545) of European American chr omosomes from a broad population by the NHLBI Exome Sequencing Project (http://e vs.gs.washingto
Ambry Genetics RCV002362758 SCV002666757 benign Inborn genetic diseases 2016-05-02 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Mayo Clinic Laboratories, Mayo Clinic RCV000677076 SCV000802913 likely benign not provided 2016-02-23 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000152015 SCV001921093 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000677076 SCV001963612 likely benign not provided no assertion criteria provided clinical testing

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