ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.*168A>G

gnomAD frequency: 0.04008  dbSNP: rs55704559
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000315103 SCV000382957 benign Autosomal dominant nonsyndromic hearing loss 3A 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000328783 SCV000382960 benign Autosomal recessive nonsyndromic hearing loss 1A 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000376404 SCV000382961 benign Ichthyosis, hystrix-like, with hearing loss 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Pars Genome Lab RCV000328783 SCV001749998 benign Autosomal recessive nonsyndromic hearing loss 1A 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000315103 SCV001749999 benign Autosomal dominant nonsyndromic hearing loss 3A 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001539374 SCV001757143 benign not provided 2018-10-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001539374 SCV005230747 benign not provided criteria provided, single submitter not provided

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