ClinVar Miner

Submissions for variant NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)

gnomAD frequency: 0.00001  dbSNP: rs750540794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489805 SCV000577196 uncertain significance not provided 2021-09-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV000765116 SCV000896338 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal recessive nonsyndromic hearing loss 1B; Autosomal dominant nonsyndromic hearing loss 3B; X-linked mixed hearing loss with perilymphatic gusher; Hidrotic ectodermal dysplasia syndrome 2018-10-31 criteria provided, single submitter clinical testing

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