ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) (rs17154353)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036480 SCV000060135 benign not specified 2010-09-16 criteria provided, single submitter clinical testing Gly740Ser in exon 19 of SLC26A4: This variant is not expected to have clinical s ignificance due a common occurrence in the general population (dbSNP - rs1715435 3).
Counsyl RCV000169090 SCV000220273 likely benign Pendred syndrome 2014-04-26 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036480 SCV000345456 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000036480 SCV000730013 likely benign not specified 2017-10-18 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.
Athena Diagnostics Inc RCV000713336 SCV000843933 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001282315 SCV000884521 benign none provided 2020-01-05 criteria provided, single submitter clinical testing
Invitae RCV000713336 SCV001123041 benign not provided 2020-12-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162821 SCV001324794 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000169090 SCV001327064 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.
Clinical Genetics,Academic Medical Center RCV000713336 SCV001923589 likely benign not provided no assertion criteria provided clinical testing

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