ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) (rs121434403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000006611 SCV000054641 pathologic Charcot-Marie-Tooth disease, type 4B1 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000006611 SCV000026794 pathogenic Charcot-Marie-Tooth disease, type 4B1 2000-05-01 no assertion criteria provided literature only

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