ClinVar Miner

Submissions for variant NM_016213.4:c.1359_1575del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Genetique Humaine, Institut de Pathologie et de Genetique RCV001731133 SCV001981519 likely pathogenic Spinal muscular atrophy with congenital bone fractures 1 2021-10-19 no assertion criteria provided clinical testing

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