ClinVar Miner

Submissions for variant NM_001130144.3(LTBP3):c.804C>T (p.Pro268=)

gnomAD frequency: 0.01247  dbSNP: rs201590889
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 RCV000554040 SCV000638186 benign Brachyolmia-amelogenesis imperfecta syndrome 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718725 SCV005318461 benign not provided criteria provided, single submitter not provided

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