ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2183G>A (p.Gly728Asp)

dbSNP: rs1560421124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002507272 SCV002816430 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-03-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003126922 SCV003802907 uncertain risk allele 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 rs1560421124 in Wolfram's syndrome yet.
Gharavi Laboratory, Columbia University RCV000722473 SCV000853604 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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