ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)

dbSNP: rs2134794079
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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 RCV002126433 SCV002451841 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-10-19 criteria provided, single submitter clinical testing

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