ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.4620del (p.Arg1540fs)

dbSNP: rs2128372930
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Inha University Hospital, Inha University College of Medicine RCV001375856 SCV001572783 likely pathogenic Coffin-Siris syndrome no assertion criteria provided clinical testing

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