ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4137C>T (p.Asp1379=)

gnomAD frequency: 0.00011  dbSNP: rs139755343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122092 SCV002396179 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499969 SCV002796098 likely benign 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 2021-11-04 criteria provided, single submitter clinical testing

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