ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.997G>A (p.Gly333Arg)

gnomAD frequency: 0.00677  dbSNP: rs61744209
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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) RCV000180583 SCV000233054 benign not specified 2015-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395951 SCV000372193 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.
Invitae RCV000528344 SCV000644121 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001657962 SCV001881788 benign not provided 2019-08-28 criteria provided, single submitter clinical testing

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