ClinVar Miner

Submissions for variant NM_001303052.2(MYT1L):c.535C>T (p.Arg179Ter)

dbSNP: rs1558414255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000782076 SCV000920547 likely pathogenic not provided 2018-12-26 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796308 SCV005418521 pathogenic Intellectual disability, autosomal dominant 39 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PP4

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