ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1191T>C (p.Asn397=)

gnomAD frequency: 0.00233  dbSNP: rs73458078
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557951 SCV000644089 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV001555601 SCV001777047 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000557951 SCV002797852 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2021-09-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001555601 SCV004130075 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing LRP4: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004541704 SCV004789250 benign LRP4-related disorder 2020-11-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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