ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)

dbSNP: rs1555937224
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518316 SCV000613489 uncertain significance not specified 2017-05-19 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789925 SCV000929310 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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