ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4171G>A (p.Asp1391Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004801702 SCV005421585 uncertain significance not provided 2024-06-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004820963 SCV005442044 uncertain significance Coffin-Siris syndrome 1 2024-12-19 criteria provided, single submitter clinical testing

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