ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.*400G>A

gnomAD frequency: 0.03568  dbSNP: rs8113500
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349098 SCV000414872 benign Hypomyelinating leukodystrophy 6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000400034 SCV000414873 benign Torsion dystonia 4 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001613070 SCV001841264 benign not provided 2021-02-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28171541)
Breakthrough Genomics, Breakthrough Genomics RCV001613070 SCV005310183 benign not provided criteria provided, single submitter not provided

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