ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3040A>G (p.Lys1014Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005028899 SCV005651226 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-29 criteria provided, single submitter clinical testing

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