ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.687-17C>T

gnomAD frequency: 0.00751  dbSNP: rs186410639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519314 SCV001728159 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001519314 SCV001817931 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476824 SCV002795397 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 2021-07-21 criteria provided, single submitter clinical testing

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