ClinVar Miner

Submissions for variant NM_004525.3(LRP2):c.1186A>G (p.Ile396Val)

dbSNP: rs527397264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106190 SCV002434007 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500165 SCV002807787 likely benign Donnai-Barrow syndrome 2021-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003053433 SCV003551588 likely benign Inborn genetic diseases 2021-08-12 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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