ClinVar Miner

Submissions for variant NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)

dbSNP: rs587783772
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV001816810 SCV000854556 pathogenic not provided 2018-11-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816810 SCV002066923 likely pathogenic not provided 2017-10-30 criteria provided, single submitter clinical testing

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