ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)

gnomAD frequency: 0.04031  dbSNP: rs17154335
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Mass General Brigham Personalized Medicine RCV000036461 SCV000060116 benign not specified 2008-04-23 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000036461 SCV000340569 benign not specified 2016-04-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000317486 SCV000466101 likely benign Autosomal recessive nonsyndromic hearing loss 4 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services,Illumina RCV000374325 SCV000466102 likely benign 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000713334 SCV000514667 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20981092, 27884173, 29739340, 22116359, 15689455, 19017801, 22389666, 25262649, 23273637, 30245029, 26886089, 23280318, 19204907, 30068397, 31656273)
Athena Diagnostics Inc RCV000713334 SCV000843931 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000713334 SCV000884520 benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Invitae RCV000713334 SCV001718048 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000036461 SCV002050892 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000036461 SCV001925270 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000036461 SCV001955917 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000036461 SCV001975618 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000374325 SCV002080011 benign Pendred syndrome 2019-11-13 no assertion criteria provided clinical testing

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