ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.2603G>C (p.Arg868Pro)

dbSNP: rs56393026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198917 SCV001369912 uncertain significance Type 2 diabetes mellitus 2020-04-01 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3.
Fulgent Genetics, Fulgent Genetics RCV002491598 SCV002800886 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2021-10-25 criteria provided, single submitter clinical testing

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