ClinVar Miner

Submissions for variant NM_003238.6(TGFB2):c.644-4C>T

gnomAD frequency: 0.00006  dbSNP: rs11466408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178188 SCV000230204 uncertain significance not provided 2015-02-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001824292 SCV000630927 likely benign Loeys-Dietz syndrome 4 2024-10-12 criteria provided, single submitter clinical testing
GeneDx RCV000178188 SCV000972598 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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