ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.3519A>C (p.Thr1173=)

dbSNP: rs567285703
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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 RCV001173770 SCV001336884 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002067856 SCV002359456 likely benign Charcot-Marie-Tooth disease type 4 2023-03-09 criteria provided, single submitter clinical testing

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