ClinVar Miner

Submissions for variant NM_024911.7(WLS):c.1606C>T (p.Arg536Cys)

dbSNP: rs773311381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gleeson Lab, University of California San Diego - Department of Neuroscience RCV001420504 SCV001622782 likely pathogenic WLS syndrome 2021-04-21 criteria provided, single submitter research
OMIM RCV001788474 SCV002030305 pathogenic Zaki syndrome 2021-12-05 no assertion criteria provided literature only

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