ClinVar Miner

Submissions for variant NM_001292034.3(TAB2):c.588C>T (p.His196=)

gnomAD frequency: 0.00001  dbSNP: rs758431534
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765927 SCV002000609 uncertain significance not provided 2021-04-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing
Labcorp Genetics (formerly Invitae), Labcorp RCV001765927 SCV005768292 likely benign not provided 2024-12-11 criteria provided, single submitter clinical testing

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