ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.5394+3A>C

dbSNP: rs1794283740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit, CHU de Montpellier RCV001261230 SCV001438250 likely pathogenic Coffin-Siris syndrome 1 2017-01-31 no assertion criteria provided clinical testing

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