ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.531C>T (p.Tyr177=)

gnomAD frequency: 0.00001  dbSNP: rs779159258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174332 SCV001337468 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405366 SCV004125119 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MPZ: BP4, BP7

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