ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.558del (p.Ile186fs)

dbSNP: rs770658701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002290038 SCV002578981 pathogenic Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2022-03-30 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789167 SCV000928519 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447198 SCV004174579 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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