ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2095G>C (p.Gly699Arg)

gnomAD frequency: 0.00030  dbSNP: rs28364667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000873014 SCV001014931 benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-10-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145586 SCV001306275 benign LAMB2-related infantile-onset nephrotic syndrome 2017-04-28 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 RCV001145587 SCV001306276 benign Pierson syndrome 2017-04-28 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.
GeneDx RCV002225756 SCV002504314 likely benign not provided 2021-04-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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