ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.-7G>A (rs398123813)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000080363 SCV000112259 uncertain significance not provided 2012-07-10 criteria provided, single submitter clinical testing
Counsyl RCV000664584 SCV000788572 uncertain significance Deafness, autosomal recessive 1A 2017-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000080363 SCV001819469 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing Observed in one unaffected control individual and no affected individuals in the published literature, however, additional details were not available (Caroca et al., 2016); Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 27501294)

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