ClinVar Miner

Submissions for variant NM_001167740.2(SMYD3):c.814-5812_814-3813del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000735908 SCV000864020 uncertain significance Cerebellar dysfunction with variable cognitive and behavioral abnormalities 2018-12-17 criteria provided, single submitter research

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