ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.174_176delinsTGTG (p.Pro59fs)

dbSNP: rs1586795216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CMT Laboratory, Bogazici University RCV001353152 SCV001548302 pathogenic Charcot-Marie-Tooth disease type 4A 2020-12-01 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789781 SCV000929165 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV003447261 SCV004174576 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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