ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.108delC

dbSNP: rs2108183267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817688 SCV002072243 likely pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728835 SCV005337188 uncertain significance TERC-related disorder 2024-04-09 no assertion criteria provided clinical testing The TERC n.108delC variant is predicted to result in an in-frame deletion (Non-Coding). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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