ClinVar Miner

Submissions for variant NM_001366057.1(OTUD4):c.581C>G (p.Ala194Gly)

gnomAD frequency: 0.00106  dbSNP: rs36225458
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004691833 SCV005190289 uncertain significance not provided criteria provided, single submitter not provided
Undiagnosed Diseases Network, NIH RCV000543230 SCV000622163 uncertain significance not specified 2016-04-18 no assertion criteria provided clinical testing

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