ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5482G>T (p.Glu1828Ter) (rs1451259945)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000723328 SCV000854722 likely pathogenic Coffin-Siris syndrome 1 2018-07-09 no assertion criteria provided clinical testing

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