ClinVar Miner

Submissions for variant NM_002335.4(LRP5):c.4704G>A (p.Ser1568=)

gnomAD frequency: 0.00002  dbSNP: rs145608758
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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 RCV001207925 SCV001379293 likely benign not provided 2024-10-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012607 SCV005630222 likely benign 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 2024-03-12 criteria provided, single submitter clinical testing

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