ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) (rs34967349)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080493 SCV000651549 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2020-12-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000554943 SCV001144402 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001148143 SCV001309013 likely 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001148144 SCV001309014 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 RCV000554943 SCV001932726 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000554943 SCV001966623 likely benign not provided no assertion criteria provided clinical testing

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