ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.2192_2198del (p.His731fs)

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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 RCV004776340 SCV005387623 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2024-10-15 criteria provided, single submitter clinical testing

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