ClinVar Miner

Submissions for variant NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)

dbSNP: rs1602349017
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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 RCV003437427 SCV004165369 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing GJB1: PM2, PM5, PS4:Supporting
Inherited Neuropathy Consortium RCV000789182 SCV000928534 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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