ClinVar Miner

Submissions for variant NM_018238.4(AGK):c.72G>A (p.Trp24Ter)

dbSNP: rs1587053244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000985092 SCV004801232 pathogenic Sengers syndrome 2024-03-14 criteria provided, single submitter research
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985092 SCV001133054 likely pathogenic Sengers syndrome 2019-09-26 no assertion criteria provided clinical testing

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