ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) (rs61729152)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245118 SCV000308797 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000539161 SCV000651528 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001148461 SCV001309360 benign Nephrotic syndrome, type 5, with or without ocular abnormalities 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 Clinical Services Laboratory,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.

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