ClinVar Miner

Submissions for variant NM_001377137.1(GBF1):c.4494C>T (p.Asp1498=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Immunology and Genetics Kaiserslautern RCV004586385 SCV005077731 uncertain significance Charcot-Marie-Tooth Disease, axonal, type 2GG 2024-06-27 criteria provided, single submitter clinical testing ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state

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