ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.74G>A (p.Cys25Tyr)

dbSNP: rs1565627777
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985164 SCV001133165 likely pathogenic Lissencephaly due to TUBA1A mutation 2019-09-26 no assertion criteria provided clinical testing

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