ClinVar Miner

Submissions for variant NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)

dbSNP: rs1907114176
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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 RCV001093239 SCV001250122 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing PMP22: PM2, PP3, PP4, PS4:Supporting
Institute of Immunology and Genetics Kaiserslautern RCV004546600 SCV005043030 uncertain significance Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 2024-04-11 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state

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