ClinVar Miner

Submissions for variant NM_178012.5(TUBB2B):c.32A>G (p.Gln11Arg)

dbSNP: rs2113820411
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV001825335 SCV002075245 not provided Complex cortical dysplasia with other brain malformations 7; Complex cortical dysplasia with other brain malformations 1 no assertion provided phenotyping only Variant classified as Likely pathogenic and reported on 09-13-2019 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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