ClinVar Miner

Submissions for variant NM_001289123.1(TUBB4A):c.*856G>A

gnomAD frequency: 0.00381  dbSNP: rs140030420
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283638 SCV000483859 likely benign Hypomyelinating leukodystrophy 6 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000341206 SCV000483860 likely benign Dystonic disorder 2016-06-14 criteria provided, single submitter clinical testing

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