ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.1491C>G (p.Pro497=)

dbSNP: rs1224453835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864089 SCV001004844 likely benign Charcot-Marie-Tooth disease type 4 2023-08-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173083 SCV001336159 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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