ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)

gnomAD frequency: 0.00246  dbSNP: rs61748876
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177906 SCV000229865 likely benign not specified 2015-03-10 criteria provided, single submitter clinical testing
Invitae RCV000643986 SCV000765673 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001539409 SCV001757184 likely benign not provided 2020-08-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004537452 SCV004739714 benign LRP4-related disorder 2022-11-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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