ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.1084G>C (p.Val362Leu)

dbSNP: rs1942166073
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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, University of Goettingen RCV001257558 SCV001430891 likely pathogenic Lissencephaly due to TUBA1A mutation 2020-08-14 no assertion criteria provided clinical testing

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