ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.129C>G (p.Thr43=)

gnomAD frequency: 0.04439  dbSNP: rs61742974
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000285927 SCV000372208 likely benign Cenani-Lenz syndactyly syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536314 SCV000644090 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001618533 SCV001844228 benign not provided 2018-07-27 criteria provided, single submitter clinical testing

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