ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His)

gnomAD frequency: 0.00034  dbSNP: rs199887429
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657940 SCV000779709 uncertain significance not provided 2021-05-06 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000657940 SCV001050877 benign not provided 2023-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000657940 SCV002498476 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing

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