ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.6470-4A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003026925 SCV003328456 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003026926 SCV003615377 likely benign Inborn genetic diseases 2022-05-02 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.
CeGaT Center for Human Genetics Tuebingen RCV003026925 SCV004147265 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing LRP2: PM2, BP4

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