ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.971-8C>T

gnomAD frequency: 0.00002  dbSNP: rs773630683
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001992228 SCV002284392 likely benign Brachyolmia-amelogenesis imperfecta syndrome 2024-11-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706263 SCV005213011 likely benign not provided criteria provided, single submitter not provided

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