ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu)

dbSNP: rs199871539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806884 SCV002051512 uncertain significance not provided 2020-11-03 criteria provided, single submitter clinical testing PM2
Fulgent Genetics, Fulgent Genetics RCV002482334 SCV002788254 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 2022-05-22 criteria provided, single submitter clinical testing

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