ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.401C>T (p.Ala134Val)

gnomAD frequency: 0.00002  dbSNP: rs746010848
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647248 SCV001519261 uncertain significance Spastic ataxia 2021-01-04 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV002493715 SCV002786653 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2022-02-11 criteria provided, single submitter clinical testing

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