ClinVar Miner

Submissions for variant NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile)

dbSNP: rs1057519593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000417096 SCV000494648 likely pathogenic Intellectual disability, autosomal dominant 4 2015-11-19 criteria provided, single submitter clinical testing Patient with mental retardation and obesity. Prader-Willi syndrome has been excluded. It has been reported that pathogenic variants in KIRREL3 cause autosomic dominant mental retardation (OMIM 607761).

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