ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp)

gnomAD frequency: 0.01699  dbSNP: rs118009068
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000342868 SCV000372192 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000532575 SCV000644087 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001683234 SCV001899359 benign not provided 2020-11-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30327840)
Breakthrough Genomics, Breakthrough Genomics RCV001683234 SCV005224295 likely benign not provided criteria provided, single submitter not provided

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