ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1829del (p.Leu610fs)

dbSNP: rs1578611240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987410 SCV001136699 pathogenic Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000987410 SCV003802922 benign 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 rs1578611240 in Wolfram's syndrome yet.

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