ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.4461C>T (p.Gly1487=)

gnomAD frequency: 0.00005  dbSNP: rs568829084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589628 SCV001814172 likely benign not provided 2019-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001589628 SCV002364153 likely benign not provided 2024-04-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001589628 SCV005436201 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing LTBP4: BP4, BP7

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