ClinVar Miner

Submissions for variant NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr)

gnomAD frequency: 0.00121  dbSNP: rs139487685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880796 SCV001023918 benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335009 SCV001528038 uncertain significance Cobblestone lissencephaly without muscular or ocular involvement 2018-08-21 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000880796 SCV001813051 uncertain significance not provided 2024-04-15 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: 23472759)
Revvity Omics, Revvity RCV001335009 SCV003816400 uncertain significance Cobblestone lissencephaly without muscular or ocular involvement 2020-12-10 criteria provided, single submitter clinical testing

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