ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3713G>A (p.Gly1238Glu)

dbSNP: rs1294549037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV000590036 SCV000693912 uncertain significance Nephronophthisis 12 2017-06-26 criteria provided, single submitter research This missense variant G1238E is absent from gnomAD and is found in trans to a pathogenic variant (P209L) and is predicted to be damaging. (PM2, PM3, PP3)
Fulgent Genetics, Fulgent Genetics RCV002483562 SCV002803854 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-05-17 criteria provided, single submitter clinical testing

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