ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.3311A>G (p.His1104Arg)

gnomAD frequency: 0.00073  dbSNP: rs144906000
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000733346 SCV000861400 likely benign not specified 2018-05-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514961 SCV001722931 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807341 SCV002055099 benign Donnai-Barrow syndrome 2021-07-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001807341 SCV002798796 likely benign Donnai-Barrow syndrome 2022-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535324 SCV003648301 likely benign Inborn genetic diseases 2022-01-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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