ClinVar Miner

Submissions for variant NM_152754.2(SEMA3D):c.1272C>A (p.His424Gln) (rs141893504)

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Total submissions: 2
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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 RCV000627055 SCV000747763 uncertain significance Hirschsprung disease 2017-11-20 criteria provided, single submitter clinical testing This variant was identified in a patient with Hirschsprung disease and a positive familial history. The patient harbours also a variant in the RET gene, which is a risk factor for this disease.
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) RCV000627055 SCV000845749 likely pathogenic Hirschsprung disease no assertion criteria provided research

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