ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4488+18G>T

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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 RCV003816670 SCV004615064 likely benign not provided 2022-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003724 SCV005630212 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 2024-02-19 criteria provided, single submitter clinical testing

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