ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.941T>C (p.Leu314Ser)

gnomAD frequency: 0.05542  dbSNP: rs7926667
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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 RCV000362404 SCV000372195 likely benign Cenani-Lenz syndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000554575 SCV000644120 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001612961 SCV001836723 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001612961 SCV005224296 likely benign not provided criteria provided, single submitter not provided

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