ClinVar Miner

Submissions for variant NM_006009.4(TUBA1A):c.615C>A (p.Asp205Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine RCV002466382 SCV002761338 likely pathogenic Tubulinopathy 2022-02-03 criteria provided, single submitter clinical testing

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