ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.1699_1704del (p.565LF[1])

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003229488 SCV003926454 likely pathogenic not provided 2023-05-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11317350, 12955714, 20738327, 10521293, 28432734)
Fulgent Genetics, Fulgent Genetics RCV005047474 SCV005672324 likely pathogenic Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-01-09 criteria provided, single submitter clinical testing

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