ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2101C>T (p.Gln701Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV005233168 SCV005880086 likely pathogenic Charcot-Marie-Tooth disease axonal type 2P no assertion criteria provided clinical testing

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