ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2673C>T (p.Gly891=) (rs144092322)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242465 SCV000308802 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001079800 SCV000651533 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2020-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712176 SCV000842606 benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001147424 SCV001308248 benign Nephrotic syndrome, type 5, with or without ocular abnormalities 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 Clinical Services Laboratory,Illumina RCV001147425 SCV001308249 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.
GeneDx RCV000712176 SCV001869670 benign not provided 2020-09-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20556798)

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