ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.-66C>G

dbSNP: rs17154282
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Total submissions: 5
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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 RCV000036416 SCV000060071 benign not specified 2009-08-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265909 SCV000466074 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). 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.
Illumina Laboratory Services, Illumina RCV000304663 SCV000466075 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). 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.
GeneDx RCV001668153 SCV001889778 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000265909 SCV001455789 benign Pendred syndrome 2020-09-16 no assertion criteria provided clinical testing

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