ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3387A>G (p.Gln1129=)

gnomAD frequency: 0.09068  dbSNP: rs34290943
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000247774 SCV000308806 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390961 SCV000445281 benign Pierson syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000297332 SCV000445282 benign LAMB2-related infantile-onset nephrotic syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001512121 SCV001719471 benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001722308 SCV001947789 benign not provided 2020-02-01 criteria provided, single submitter clinical testing

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