ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1655+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Autoinflammatory diseases unit,CHU de Montpellier RCV001261288 SCV001438274 likely pathogenic Opitz GBBB syndrome, type I 2020-01-14 no assertion criteria provided clinical testing

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