ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.1054G>T (p.Ala352Ser)

dbSNP: rs886041015
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995673 SCV001149978 likely pathogenic Hypomyelinating leukodystrophy 6 2019-05-07 criteria provided, single submitter clinical testing

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