ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.497del (p.Lys166fs)

dbSNP: rs2105363277
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Precision Medicine Center, Zhengzhou University RCV001391115 SCV001593019 pathogenic Nephronophthisis 12 criteria provided, single submitter research PVS1:Null variant in the gene with established LOF as a disease mechanism PM2:not found in gnomAD PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796631 SCV005415785 likely pathogenic Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 criteria provided, single submitter clinical testing PM2_Supporting+PVS1

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