ClinVar Miner

Submissions for variant NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys)

gnomAD frequency: 0.00004  dbSNP: rs371307389
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661933 SCV000784258 uncertain significance Acetyl-CoA acetyltransferase-2 deficiency 2018-03-05 criteria provided, single submitter clinical testing

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