ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)

gnomAD frequency: 0.00111  dbSNP: rs149082597
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000360139 SCV000334713 uncertain significance not provided 2015-09-02 criteria provided, single submitter clinical testing
Invitae RCV000524562 SCV000644118 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000524562 SCV000894629 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107019 SCV001264144 likely benign Cenani-Lenz syndactyly syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV004535290 SCV004729472 likely benign LRP4-related disorder 2021-05-11 criteria provided, single submitter 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000360139 SCV001798245 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000360139 SCV001929402 likely benign not provided no assertion criteria provided clinical testing

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