ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6451_6453del (p.Leu2151del)

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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 RCV004555478 SCV005044453 likely pathogenic Coffin-Siris syndrome 1 2023-05-22 criteria provided, single submitter clinical testing ACMG Criteria: PS2,PM4,PM2_SUP,PP3,PP4,BP1

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