ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.3384-4A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV005054008 SCV005687495 uncertain significance SIN3A-related intellectual disability syndrome due to a point mutation 2024-12-30 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP,PP3

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