ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.1447C>T (p.Arg483Cys)

gnomAD frequency: 0.00015  dbSNP: rs139568495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000889439 SCV001033119 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000889439 SCV001873635 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
GenomeConnect - Brain Gene Registry RCV000889439 SCV004804563 not provided not provided no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 06-24-2022 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website -

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