ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) (rs147076626)

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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 RCV000250277 SCV000308801 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000544546 SCV000651531 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2020-11-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001149917 SCV001310917 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001149918 SCV001310918 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699089 SCV001926770 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699089 SCV001966102 likely benign not provided no assertion criteria provided clinical testing

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