ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.694C>A (p.Arg232Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Daryl Scott Lab, Baylor College of Medicine RCV003397197 SCV004102707 uncertain significance Cenani-Lenz syndactyly syndrome 2023-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005051293 SCV005684381 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-04 criteria provided, single submitter clinical testing

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