ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.523C>T (p.Arg175Trp)

gnomAD frequency: 0.00003  dbSNP: rs373823574
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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 RCV000761788 SCV000891983 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485973 SCV002786660 uncertain significance Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts 2022-03-15 criteria provided, single submitter clinical testing

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