ClinVar Miner

Submissions for variant NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) (rs754465226)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Cologne University RCV000664228 SCV000787793 likely pathogenic Charcot-Marie-Tooth disease, axonal, type 2S 2018-04-25 no assertion criteria provided clinical testing
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000498809 SCV000590850 uncertain significance not specified 2017-01-05 criteria provided, single submitter clinical testing

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