ClinVar Miner

Submissions for variant NM_002334.4(LRP4):c.1551T>C (p.Ala517=)

gnomAD frequency: 0.00307  dbSNP: rs150777198
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174518 SCV000225830 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Invitae RCV001083066 SCV000644095 benign Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000528569 SCV001148262 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing LRP4: BP4, BP7, BS2
Illumina Laboratory Services, Illumina RCV001107848 SCV001265033 uncertain significance Cenani-Lenz syndactyly syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000528569 SCV001796884 likely benign not provided 2021-09-17 criteria provided, single submitter clinical testing

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