ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1532A>C (p.Asp511Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003398053 SCV004137092 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing LRP5: PM2:Supporting
Fulgent Genetics, Fulgent Genetics RCV005051302 SCV005684351 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts 2024-03-06 criteria provided, single submitter clinical testing

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