ClinVar Miner

Submissions for variant NM_005391.5(PDK3):c.674-11T>C

gnomAD frequency: 0.00010  dbSNP: rs756028485
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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 RCV001173743 SCV001336857 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002068093 SCV002342932 benign Charcot-Marie-Tooth disease X-linked dominant 6 2023-09-29 criteria provided, single submitter clinical testing

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