ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3338C>T (p.Ser1113Leu)

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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 RCV005046820 SCV005683194 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-03-18 criteria provided, single submitter clinical testing

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