ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.2010G>A (p.Thr670=)

gnomAD frequency: 0.00001  dbSNP: rs199654257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001983200 SCV002244829 likely benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001983200 SCV002780851 uncertain significance Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-11-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481221 SCV004226156 uncertain significance not provided 2022-12-20 criteria provided, single submitter clinical testing

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