ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.636C>T (p.Gly212=)

gnomAD frequency: 0.00015  dbSNP: rs17848239
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423519 SCV000535390 likely benign not specified 2017-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001069807 SCV001235003 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-12-09 criteria provided, single submitter clinical testing

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