ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1614+7A>G

gnomAD frequency: 0.00034  dbSNP: rs199643344
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727835 SCV000855268 likely benign not specified 2018-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000835660 SCV000977461 likely benign not provided 2018-06-08 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 RCV000835660 SCV001084710 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164803 SCV001326953 uncertain significance 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. 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 Laboratory Services, Illumina RCV001164804 SCV001326954 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003953292 SCV004781562 benign SLC26A4-related condition 2019-04-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001164804 SCV002080002 benign Pendred syndrome 2019-10-22 no assertion criteria provided clinical testing

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