ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1314G>A (p.Ala438=)

gnomAD frequency: 0.00094  dbSNP: rs140740739
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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 RCV000878465 SCV001021377 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382019 SCV002694668 likely benign Inborn genetic diseases 2022-03-04 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.
CeGaT Center for Human Genetics Tuebingen RCV003411873 SCV004136923 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing LTBP3: BP4, BP7

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