ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)

dbSNP: rs764993824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001667855 SCV001890915 pathogenic Wolfram syndrome 1 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496000 SCV002795675 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-05-09 criteria provided, single submitter clinical testing

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