ClinVar Miner

Submissions for variant NM_024009.3(GJB3):c.499G>A (p.Val167Met)

gnomAD frequency: 0.00004  dbSNP: rs376748531
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000407015 SCV000343287 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763901 SCV000894838 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Autosomal dominant nonsyndromic hearing loss 2B; Erythrokeratodermia variabilis et progressiva 1 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000407015 SCV001073020 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000407015 SCV001793100 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000407015 SCV004235143 uncertain significance not provided 2023-11-08 criteria provided, single submitter clinical testing

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