ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.1996G>A (p.Asp666Asn)

gnomAD frequency: 0.00009  dbSNP: rs180941579
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975980 SCV001123873 likely benign not provided 2024-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049721 SCV005684367 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 2024-06-21 criteria provided, single submitter clinical testing
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252844 SCV001163987 uncertain significance Microcephaly no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004743235 SCV005365682 likely benign LRP5-related disorder 2024-08-26 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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