ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)

dbSNP: rs1766647259
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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 RCV001261246 SCV001438080 likely pathogenic Treacher Collins syndrome 1 2018-10-10 no assertion criteria provided clinical testing

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