ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.205-8A>G

gnomAD frequency: 0.00002  dbSNP: rs180899529
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144477 SCV003833548 uncertain significance Autosomal recessive nonsyndromic hearing loss 102 2021-08-20 criteria provided, single submitter clinical testing
Center for Statistical Genetics, Columbia University RCV000679815 SCV000804806 pathogenic Deafness 2018-09-10 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291324 SCV001479797 likely pathogenic Hearing loss, autosomal recessive no assertion criteria provided research

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