ClinVar Miner

Submissions for variant NM_006755.2(TALDO1):c.793del (p.Gln265fs) (rs727502867)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000150042 SCV001521107 pathogenic Deficiency of transaldolase 2019-04-19 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 23315216]
OMIM RCV000150042 SCV000196912 pathogenic Deficiency of transaldolase 2013-11-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000150042 SCV001133214 pathogenic Deficiency of transaldolase 2019-09-26 no assertion criteria provided clinical testing

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