ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.2894-7C>T

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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 RCV003112064 SCV003786295 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2025-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753660 SCV005341461 likely benign LTBP3-related disorder 2024-09-07 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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