ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) (rs111033310)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036481 SCV000060136 uncertain significance not specified 2008-10-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000584878 SCV000693249 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164904 SCV001327065 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001164905 SCV001327066 uncertain significance Pendred syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375368 SCV001571751 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Supporting, PM3_Moderate, PP4_Supporting
Natera, Inc. RCV001164905 SCV001459943 uncertain significance Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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