ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4248G>A (p.Ala1416=)

gnomAD frequency: 0.00002  dbSNP: rs17848257
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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 RCV000905891 SCV001050492 likely benign not provided 2024-09-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479041 SCV002797304 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 2022-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743183 SCV005342852 likely benign LRP5-related disorder 2024-09-25 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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