ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.24C>T (p.Ser8=) (rs144841836)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084731 SCV000636240 likely benign Charcot-Marie-Tooth disease, type I 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000615185 SCV000718982 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000559261 SCV001147497 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174331 SCV001337467 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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