ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.2113G>C (p.Val705Leu)

gnomAD frequency: 0.00242  dbSNP: rs34150332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000961809 SCV000726924 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000961809 SCV001108863 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821746 SCV002069844 benign not specified 2017-10-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928008 SCV004746913 likely benign LAMB1-related disorder 2019-09-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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