ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1638A>G (p.Lys546=)

gnomAD frequency: 0.98127  dbSNP: rs10838631
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336162 SCV000372186 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511970 SCV001719296 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001642948 SCV001857529 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730665 SCV001981457 benign Congenital myasthenic syndrome 17 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000336162 SCV001981458 benign Cenani-Lenz syndactyly syndrome 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730664 SCV001981459 benign Sclerosteosis 2 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001642948 SCV005320251 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529129 SCV001742069 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529129 SCV001956143 benign not specified no assertion criteria provided clinical testing

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