ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2919G>T (p.Arg973=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003793061 SCV004579123 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-12-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003793061 SCV005683208 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-04-28 criteria provided, single submitter clinical testing

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