ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.2179+9G>A

gnomAD frequency: 0.00003  dbSNP: rs375581403
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601246 SCV000715410 likely benign not specified 2017-01-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529401 SCV003487576 likely benign not provided 2025-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945467 SCV004760990 likely benign LTBP4-related disorder 2019-11-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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