ClinVar Miner

Submissions for variant NM_181882.3(PRX):c.468C>T (p.Val156=)

gnomAD frequency: 0.00006  dbSNP: rs543875999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001503246 SCV001708098 likely benign Charcot-Marie-Tooth disease type 4 2021-10-04 criteria provided, single submitter clinical testing

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