ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3655_3656dup (p.Pro1220fs)

dbSNP: rs1057519009
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics, CHU RENNES RCV000414768 SCV000493106 likely pathogenic Coffin-Siris syndrome no assertion criteria provided clinical testing

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