ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln)

gnomAD frequency: 0.00054  dbSNP: rs141390544
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501774 SCV000595531 uncertain significance not specified 2015-08-24 criteria provided, single submitter clinical testing
GeneDx RCV001558489 SCV001780445 likely benign not provided 2020-08-06 criteria provided, single submitter clinical testing
Invitae RCV001558489 SCV002394344 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001558489 SCV004026465 uncertain significance not provided 2022-03-09 criteria provided, single submitter clinical testing PM1, PM2_SUP, PM3, BP4
Ambry Genetics RCV004023381 SCV004894222 likely benign Inborn genetic diseases 2021-10-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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