ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.203A>G (p.Tyr68Cys) (rs397516870)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037822 SCV000061484 likely benign not specified 2010-10-04 criteria provided, single submitter clinical testing Tyr68Cys in exon 2 of GJB2: This variant has been reported with a similar frequency in individuals with hearing loss (3/4,032 (.07%)) and controls (3/7,770 (.04%)) and none of the 3 probands were noted to have a second GJB2 variant (Guo 2008, Roux 2004, Tsukada 2010). In addition, this variant is not conserved across mammals. In summary, the data suggests that this variant is most likely benign.

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