ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4299+4A>G

dbSNP: rs781754253
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Total submissions: 1
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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 RCV001027691 SCV001190263 likely pathogenic Nemaline myopathy 2 2019-05-03 no assertion criteria provided clinical testing

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