ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3714+2T>G

dbSNP: rs1404726383
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000505225 SCV000599245 pathogenic Coffin-Siris syndrome 1 2017-03-28 no assertion criteria provided clinical testing

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