ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu)

gnomAD frequency: 0.00026  dbSNP: rs200624778
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724481 SCV000227920 uncertain significance not provided 2015-08-14 criteria provided, single submitter clinical testing
GeneDx RCV000724481 SCV000619253 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000724481 SCV001217046 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005008102 SCV005630215 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 2024-03-13 criteria provided, single submitter clinical testing

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