ClinVar Miner

Submissions for variant NM_138701.4(MPLKIP):c.339+1G>A

dbSNP: rs869312900
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000210474 SCV000266518 pathogenic Trichothiodystrophy 4, nonphotosensitive 2016-02-01 criteria provided, single submitter research

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