ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.3364C>T (p.Leu1122Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791009 SCV005412920 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing BP4, PM2
Fulgent Genetics, Fulgent Genetics RCV005017288 SCV005651210 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-02-03 criteria provided, single submitter clinical testing

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