ClinVar Miner

Submissions for variant NM_018196.4(TMLHE):c.638+2del

dbSNP: rs2124340926
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001728047 SCV001976436 likely pathogenic Epsilon-trimethyllysine hydroxylase deficiency 2018-11-20 no assertion criteria provided clinical testing

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