ClinVar Miner

Submissions for variant NM_018255.4(ELP2):c.2237del (p.Cys746fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315189 SCV004014813 likely pathogenic Intellectual disability, autosomal recessive 58 2023-05-16 criteria provided, single submitter clinical testing

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