ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.3550C>T (p.Arg1184Trp)

gnomAD frequency: 0.00047  dbSNP: rs34051360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896158 SCV001040237 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000896158 SCV001784675 uncertain significance not provided 2024-12-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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