ClinVar Miner

Submissions for variant NM_002340.6(LSS):c.1054G>A (p.Gly352Arg)

gnomAD frequency: 0.00004  dbSNP: rs373046759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770930 SCV001993048 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31322293)
Labcorp Genetics (formerly Invitae), Labcorp RCV001770930 SCV002311097 likely pathogenic not provided 2021-08-14 criteria provided, single submitter clinical testing

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