ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1005C>T (p.Asn335=)

gnomAD frequency: 0.00077  dbSNP: rs141757569
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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 RCV000873886 SCV001015974 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2023-12-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000873886 SCV002795773 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2022-01-08 criteria provided, single submitter clinical testing

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