ClinVar Miner

Submissions for variant NM_178014.4(TUBB):c.917G>C (p.Arg306Pro)

dbSNP: rs2127749740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003235602 SCV003933344 likely pathogenic not provided 2023-06-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV001825288 SCV002075120 not provided Complex cortical dysplasia with other brain malformations 6 no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 03-20-2020 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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