ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1002-9A>C (rs10234822)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000036419 SCV000304279 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000442573 SCV000511608 benign not provided 2016-07-08 criteria provided, single submitter clinical testing
Counsyl RCV000674864 SCV000800267 likely benign Pendred syndrome 2018-05-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036419 SCV000857951 benign not specified 2017-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000442573 SCV000985436 benign not provided 2018-03-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000442573 SCV001118601 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000036419 SCV001159159 benign not specified 2018-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000674864 SCV001321504 benign Pendred syndrome 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001159774 SCV001321505 benign Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-04-28 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036419 SCV000060074 benign not specified 2008-08-27 no assertion criteria provided clinical testing
Natera, Inc. RCV000674864 SCV001455806 benign Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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