ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.-1-12T>C

gnomAD frequency: 0.00352  dbSNP: rs145916279
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Total submissions: 5
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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 RCV000217358 SCV000269866 benign not specified 2012-04-30 criteria provided, single submitter clinical testing -13T>C in Promoter of TECTA: This variant is not expected to have clinical signi ficance because it has been identified in 0.6% (40/7020) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washingt
PreventionGenetics, part of Exact Sciences RCV000217358 SCV000311046 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269720 SCV000483226 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577732 SCV000483227 likely benign Hearing loss, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001560515 SCV001782944 likely benign not provided 2020-06-25 criteria provided, single submitter clinical testing

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