ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)

dbSNP: rs1924721014
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196341 SCV001366942 likely pathogenic LZTR1-related schwannomatosis 2019-11-22 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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