ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.1053G>A (p.Pro351=)

gnomAD frequency: 0.00004  dbSNP: rs142741166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994258 SCV001147687 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174818 SCV001338174 likely benign not specified 2020-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000415699 SCV003292631 likely benign Loeys-Dietz syndrome 4 2025-01-30 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415699 SCV000493805 uncertain significance Loeys-Dietz syndrome 4 no assertion criteria provided clinical testing

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