ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.*11G>A (rs113496951)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036413 SCV000060068 benign not specified 2012-04-30 criteria provided, single submitter clinical testing *11G>A in Exon 21 of SLC26A4: This variant is not expected to have clinical sign ificance because it has been identified in 2.5% (93/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs113496951).
Illumina Clinical Services Laboratory,Illumina RCV001159994 SCV001321755 benign Pendred syndrome 2017-10-02 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001159995 SCV001321756 likely benign Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2017-10-02 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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