ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3858C>T (p.Ala1286=)

gnomAD frequency: 0.00022  dbSNP: rs555971472
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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 RCV002173714 SCV002422769 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2024-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352876 SCV002619963 likely benign Inborn genetic diseases 2022-08-22 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 RCV003913773 SCV004729350 likely benign LTBP3-related disorder 2019-05-23 criteria provided, single submitter 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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