ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3958G>A (p.Glu1320Lys)

gnomAD frequency: 0.00003  dbSNP: rs748162115
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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 RCV001218896 SCV001390804 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012628 SCV005630175 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 2024-01-10 criteria provided, single submitter clinical testing

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