ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.3427+12G>A

gnomAD frequency: 0.00002  dbSNP: rs756103866
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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 RCV001882026 SCV002165714 likely benign not provided 2022-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490144 SCV002780680 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 2022-03-24 criteria provided, single submitter clinical testing

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