ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)

dbSNP: rs1555937145
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512953 SCV000609394 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789240 SCV000928592 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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