ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)

gnomAD frequency: 0.00018  dbSNP: rs201253200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770790 SCV001992837 uncertain significance not provided 2019-06-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002032856 SCV002277036 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2023-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002032856 SCV002776083 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-12-16 criteria provided, single submitter clinical testing

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