ClinVar Miner

Submissions for variant NM_138425.4(C12orf57):c.53-2A>G

dbSNP: rs1114167293
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000985183 SCV001521999 pathogenic Temtamy syndrome 2019-12-10 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000985183 SCV004805049 pathogenic Temtamy syndrome 2024-03-17 criteria provided, single submitter research
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000491421 SCV000282204 pathogenic Global developmental delay; Hydronephrosis; Vesicoureteral reflux; Intellectual disability; Renal atrophy; Attention deficit hyperactivity disorder 2016-01-10 no assertion criteria provided research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985183 SCV001133198 pathogenic Temtamy syndrome 2019-09-26 no assertion criteria provided clinical testing

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