ClinVar Miner

Submissions for variant NM_024715.4(TXNDC15):c.673_687del (p.Ser225_His229del)

dbSNP: rs886039791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), 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
OMIM RCV002248498 SCV002520573 pathogenic Meckel syndrome 14 2022-05-13 no assertion criteria provided literature only

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