ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.228C>T (p.Val76=)

gnomAD frequency: 0.00001  dbSNP: rs760772599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602105 SCV000725798 likely benign not specified 2017-12-26 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001499646 SCV001704413 likely benign Loeys-Dietz syndrome 2 2020-10-30 criteria provided, single submitter clinical testing

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