ClinVar Miner

Submissions for variant NM_005391.5(PDK3):c.249-9dup

dbSNP: rs374771377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173741 SCV001336855 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001673027 SCV001884448 benign not provided 2021-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505752 SCV002809308 benign Charcot-Marie-Tooth disease X-linked dominant 6 2022-04-13 criteria provided, single submitter clinical testing

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