ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)

dbSNP: rs797045074
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092107 SCV001248471 pathogenic not provided 2019-06-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV000258534 SCV004175494 pathogenic Hypomyelinating leukodystrophy 6 2023-05-29 criteria provided, single submitter clinical testing
GeneReviews RCV000258534 SCV000328480 not provided Hypomyelinating leukodystrophy 6 no assertion provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001004000 SCV001162044 pathogenic Global developmental delay; Microcephaly; Cerebral hypomyelination; Aplasia/Hypoplasia of the cerebellum; Abnormal basal ganglia MRI signal intensity; Tetraplegia/tetraparesis no assertion criteria provided research

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