ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1310-9G>C

gnomAD frequency: 0.00017  dbSNP: rs200509094
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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 RCV000871152 SCV001012758 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-03-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540231 SCV004789127 likely benign LRP4-related disorder 2019-04-29 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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