ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)

gnomAD frequency: 0.00060  dbSNP: rs144639401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474125 SCV001678291 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-01-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001474125 SCV002810140 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530866 SCV004734570 likely benign LRP4-related disorder 2019-05-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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