ClinVar Miner

Submissions for variant NM_024715.3(TXNDC15):c.673_687del (p.Ser225_His229del) (rs886039791)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000256431 SCV000322765 likely pathogenic Meckel-Gruber syndrome no assertion criteria provided research Loss of function, autozygosity mapping, segregation, gene independently mutated in three families with Meckel-Gruber syndrome, experimental evidence linking TXNDC15 to ciliogenesis

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