ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.1847C>T (p.Thr616Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004785231 SCV005397868 uncertain significance Intellectual disability, autosomal recessive 58 2020-12-04 criteria provided, single submitter clinical testing

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