ClinVar Miner

Submissions for variant NM_030973.3(MED25):c.234C>G (p.Pro78=) (rs74863643)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475601 SCV000560908 benign Charcot-Marie-Tooth disease, type 2 2020-12-08 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173684 SCV001336786 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001706538 SCV001838965 benign not provided 2015-03-03 criteria provided, single submitter clinical testing

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