ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3364A>G (p.Ile1122Val)

gnomAD frequency: 0.00056  dbSNP: rs149853330
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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 RCV001132204 SCV001291859 uncertain significance Donnai-Barrow 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001309361 SCV001498857 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001132204 SCV002055135 uncertain significance Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV001132204 SCV002515340 uncertain significance Donnai-Barrow syndrome 2022-02-01 criteria provided, single submitter clinical testing

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