ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)

dbSNP: rs587784000
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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 RCV000415074 SCV000492968 likely pathogenic Brachydactyly; Global developmental delay; Abnormal facial shape; Intellectual disability 2014-04-04 criteria provided, single submitter clinical testing

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