ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.*356_*357insTT

dbSNP: rs568320906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000405832 SCV000450734 uncertain significance WFS1-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299844 SCV000450735 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126702 SCV003802898 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 rs568320906 in Wolfram's syndrome yet.

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