ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3450C>T (p.Gly1150=)

gnomAD frequency: 0.00006  dbSNP: rs988974106
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002548297 SCV001111810 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454192 SCV002616753 likely benign Inborn genetic diseases 2022-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003897944 SCV004709485 likely benign LTBP3-related disorder 2023-01-19 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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