ClinVar Miner

Submissions for variant NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Anatomy and Cell Biology, Medical Faculty, University Of Bonn RCV003457219 SCV004176847 likely pathogenic Congenital anomalies of kidney and urinary tract 1 2023-08-16 no assertion criteria provided clinical testing This variant was observed in homozygosity

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