ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.499G>A (p.Val167Met) (rs111033360)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665938 SCV000790150 uncertain significance Deafness, autosomal recessive 1A 2017-03-22 criteria provided, single submitter clinical testing
Mendelics RCV000665938 SCV001138907 benign Deafness, autosomal recessive 1A 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000991849 SCV001143673 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing
GeneDx RCV000991849 SCV001986168 uncertain significance not provided 2020-09-16 criteria provided, single submitter clinical testing Observed in multiple individuals with apparent autosomal recessive nonsyndromic hearing loss in published literature; however, the majority of these individuals did not harbor another variant in the GJB2 gene (Gasmelseed et al., 2004; Bosch et al., 2014; Wonkam et al., 2015; Shi et al., 2016; Tingang et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17426645, 25388846, 17666888, 30245029, 31731535, 25087612, 25162826, 27534436, 26046157, 14722929)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037861 SCV000061523 likely benign not specified 2007-06-29 no assertion criteria provided clinical testing

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