ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.731-2A>G

dbSNP: rs752216720
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806313 SCV002053818 pathogenic Deficiency of acetyl-CoA acetyltransferase criteria provided, single submitter clinical testing

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