ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)

dbSNP: rs104894402
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678872 SCV000805065 likely pathogenic Hearing loss 2016-04-21 no assertion criteria provided clinical testing

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