ClinVar Miner

Submissions for variant NM_018082.6(POLR3B):c.1996G>A (p.Gly666Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796443 SCV005418910 uncertain significance Charcot-Marie-Tooth disease, demyelinating, IIA 1I criteria provided, single submitter clinical testing PM2_Supporting+PP3_Moderate+PP2

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