ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.*54G>A

gnomAD frequency: 0.00852  dbSNP: rs147627264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001105798 SCV001262801 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.
GeneDx RCV001566235 SCV001789723 likely benign not provided 2018-10-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001566235 SCV005224276 likely benign not provided criteria provided, single submitter not provided

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