ClinVar Miner

Submissions for variant NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)

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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 RCV003988707 SCV004804818 likely pathogenic Intellectual developmental disorder, autosomal dominant 72 2024-02-27 criteria provided, single submitter clinical testing

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