ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro)

dbSNP: rs1560422132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001816793 SCV002067519 likely benign not specified 2020-07-18 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003148856 SCV003804409 uncertain significance 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 rs1560422132 in Wolfram's syndrome yet.
Gharavi Laboratory, Columbia University RCV000722519 SCV000853650 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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