ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.4370G>A (p.Arg1457Gln) (rs148818522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707719 SCV000618973 benign not provided 2020-12-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18594871, 20556798)
Invitae RCV000872737 SCV001014600 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2020-10-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001148047 SCV001308907 benign Nephrotic syndrome, type 5, with or without ocular abnormalities 2017-10-06 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 RCV001148048 SCV001308908 benign Pierson syndrome 2017-10-06 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.

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