ClinVar Miner

Submissions for variant NM_032861.4(SERAC1):c.438del (p.Thr147fs)

dbSNP: rs1583595091
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850598 SCV000992825 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2017-12-31 criteria provided, single submitter clinical testing
Ro'ya Specialized Medical Laboratories, King Abdulaziz University RCV000850598 SCV001334139 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2020-05-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000850598 SCV002555220 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2022-03-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000850598 SCV004806153 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2024-03-25 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000850598 SCV001132994 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2019-08-25 no assertion criteria provided clinical testing
OMIM RCV000850598 SCV002016242 pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2021-11-17 no assertion criteria provided literature only

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