ClinVar Miner

Submissions for variant NM_001292034.3(TAB2):c.156A>G (p.Arg52=)

gnomAD frequency: 0.00012  dbSNP: rs143213478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904438 SCV001048954 likely benign not provided 2023-06-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000904438 SCV001154903 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000904438 SCV001998858 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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