ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) (rs879253755)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000234917 SCV000292227 likely pathogenic Charcot-Marie-Tooth disease type 2P 2015-05-22 criteria provided, single submitter clinical testing Charcot-Marie-Tooth disease type 2P has been reported by several publications to be caused by heterozygous or homozygous mutations in the LRSAM1 gene. Here we report a patient with suspicion of CMT disease type 2, harbouring a mutation which is predicted to affect the Zinc finger region of LRSAM1 protein.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001171878 SCV001334766 pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing

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