ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4112-14T>C

gnomAD frequency: 0.00078  dbSNP: rs200717286
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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 RCV001513071 SCV001720605 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001513071 SCV001817649 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495792 SCV002797985 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 2021-09-27 criteria provided, single submitter clinical testing

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