ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.439del (p.Arg147fs)

dbSNP: rs1560408865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760988 SCV000890901 pathogenic Wolfram syndrome 1 2018-04-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000760988 SCV002773832 pathogenic Wolfram syndrome 1 criteria provided, single submitter research Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy.However no sufficient evidence is found to ascertain the role of this particular variant rs1560408865 in Wolfram's syndrome yet.

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