ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1420A>C (p.Met474Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005039190 SCV005660245 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-02-03 criteria provided, single submitter clinical testing

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