ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)

dbSNP: rs1057518918
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415239 SCV000492917 likely pathogenic Hypertrichosis; Global developmental delay; Bilateral cryptorchidism; Delayed speech and language development; Intellectual disability; Abnormal speech pattern 2014-11-20 criteria provided, single submitter clinical testing

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