ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1644G>A (p.Leu548=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005227082 SCV005870018 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-01-31 criteria provided, single submitter clinical testing

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