ClinVar Miner

Submissions for variant NM_001069.3(TUBB2A):c.161C>A (p.Ala54Asp)

dbSNP: rs1762626578
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001249457 SCV001997949 uncertain significance not provided 2019-10-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001249457 SCV001423469 not provided not provided no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 11-20-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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