ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.2400G>A (p.Lys800=)

dbSNP: rs2079430394
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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 RCV001173092 SCV001336168 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001422830 SCV001625388 likely benign Charcot-Marie-Tooth disease type 4 2022-10-28 criteria provided, single submitter clinical testing

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