ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val)

gnomAD frequency: 0.05087  dbSNP: rs11545200
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520683 SCV001729851 benign Brachyolmia-amelogenesis imperfecta syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001615207 SCV001833981 benign not provided 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615207 SCV005318459 benign not provided criteria provided, single submitter not provided

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