ClinVar Miner

Submissions for variant NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)

dbSNP: rs886041010
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000258532 SCV000328464 not provided Hypomyelinating leukodystrophy 6 no assertion provided literature only
Molecular Genetics laboratory, Necker Hospital RCV003325306 SCV004031310 pathogenic not provided 2023-04-11 no assertion criteria provided clinical testing

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