ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.629G>T (p.Gly210Val)

dbSNP: rs565288775
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978365 SCV001126293 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000978365 SCV002006119 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27182040)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279680 SCV002566874 uncertain significance Connective tissue disorder 2019-04-01 criteria provided, single submitter clinical testing

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