ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln)

gnomAD frequency: 0.01347  dbSNP: rs61729152
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245118 SCV000308797 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000539161 SCV000651528 benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148461 SCV001309360 benign LAMB2-related infantile-onset nephrotic 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001148462 SCV001309361 benign Pierson 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294123 SCV002587551 likely benign Kidney disorder 2016-12-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430805 SCV004147383 benign not provided 2024-02-01 criteria provided, single submitter clinical testing LAMB2: BP4, BS1, BS2

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