ClinVar Miner

Submissions for variant NM_000441.1(SLC26A4):c.-139C>T (rs879914861)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000403554 SCV000466071 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299498 SCV000466072 uncertain significance Pendred syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605842 SCV000712457 uncertain significance not specified 2018-10-30 criteria provided, single submitter clinical testing The c.-139C>T variant in SLC26A4 has been previously reported in 1 individual wi th hearing loss by our laboratory. It has also been identified in 0.03% (5/15424 ) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org) and has b een reported in ClinVar (Variation ID 358492). This variant is located in the 5' UTR. It is unknown whether this variant impacts protein function. In summary, th e clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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