ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.3501C>T (p.Gly1167=)

gnomAD frequency: 0.00001  dbSNP: rs772160343
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003296652 SCV004000372 likely benign Inborn genetic diseases 2023-05-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003777142 SCV004668162 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2024-04-07 criteria provided, single submitter clinical testing

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