ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)

gnomAD frequency: 0.00063  dbSNP: rs147688807
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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 RCV000981777 SCV001129778 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808994 SCV005433322 uncertain significance not provided 2024-10-01 criteria provided, single submitter clinical testing LRP4: PP3

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