ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) (rs769429967)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991442 SCV001142839 likely pathogenic Charcot-Marie-Tooth disease, type 4B1 2019-06-20 criteria provided, single submitter clinical testing
Section for Clinical Neurogenetics,University of Tübingen RCV000991442 SCV001156093 likely pathogenic Charcot-Marie-Tooth disease, type 4B1 2019-08-01 no assertion criteria provided research

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