ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.1838-2_1838-1del

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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 Immunology and Genetics Kaiserslautern RCV004674048 SCV005093846 likely pathogenic 3M syndrome 2 2024-07-20 criteria provided, single submitter clinical testing ACMG Criteria: PVS1, PM2; Variant was found in homozygous state

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