ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+1468A>G

gnomAD frequency: 0.00001  dbSNP: rs202106275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001496123 SCV001700814 likely benign Loeys-Dietz syndrome 2 2022-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001751776 SCV001987861 uncertain significance not provided 2019-05-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31983221)

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