ClinVar Miner

Submissions for variant NC_000007.13:g.107301160C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449757 SCV001653032 uncertain significance not specified 2021-03-31 criteria provided, single submitter clinical testing The c.-144C>T variant in SLC26A4 has not been previously reported in individuals with hearing loss, but has been identified in 0.026% (4/15424) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant is in the 5' untranslated region (UTR) of the SLC26A4 gene. At this time, we are unable to predict whether or not this variant impacts the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_P.

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