ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1695G>A (p.Glu565=)

gnomAD frequency: 0.05533  dbSNP: rs61741501
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000295279 SCV000372185 likely benign Cenani-Lenz syndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539300 SCV000644096 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001653501 SCV001866506 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001653501 SCV005224290 likely benign not provided criteria provided, single submitter not provided

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