ClinVar Miner

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

dbSNP: rs587783772
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Total submissions: 3
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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 RCV000735401 SCV000854556 pathogenic Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormal cerebral white matter morphology; Abnormal nostril morphology; Secondary microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Primary microcephaly 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
Center for Personalized Medicine, Children's Hospital Los Angeles RCV003156130 SCV003845332 pathogenic See cases 2022-12-21 criteria provided, single submitter clinical testing

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