ClinVar Miner

Submissions for variant NM_024715.4(TXNDC15):c.103+1G>A

dbSNP: rs886039792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV002248499 SCV004801223 pathogenic Meckel syndrome 14 2024-03-14 criteria provided, single submitter research
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000256449 SCV000322766 likely pathogenic Meckel-Gruber syndrome no assertion criteria provided research Loss of function, autozygosity mapping, gene independently mutated in three families with Meckel-Gruber syndrome, experimental evidence linking TXNDC15 to ciliogenesis
OMIM RCV002248499 SCV002520574 pathogenic Meckel syndrome 14 2022-05-13 no assertion criteria provided literature only

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