ClinVar Miner

Submissions for variant NM_003722.5(TP63):c.2034G>A (p.Glu678=)

gnomAD frequency: 0.00021  dbSNP: rs140508531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604289 SCV000727241 likely benign not specified 2018-01-26 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 RCV001497917 SCV001702655 likely benign TP63-Related Spectrum Disorders 2024-12-03 criteria provided, single submitter clinical testing

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