ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1049-6G>C

gnomAD frequency: 0.00001  dbSNP: rs775792196
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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 RCV002189395 SCV002344843 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002189395 SCV002810633 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-08-13 criteria provided, single submitter clinical testing

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