ClinVar Miner

Submissions for variant NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)

dbSNP: rs1554757237
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677722 SCV000803876 likely pathogenic Fetal akinesia deformation sequence 1 2017-11-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784300 SCV002017823 likely pathogenic not provided 2019-10-04 criteria provided, single submitter clinical testing

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