ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1083dup (p.Ala362fs)

dbSNP: rs387906283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Gifu University RCV000002976 SCV000966116 pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-05-05 criteria provided, single submitter research
OMIM RCV000002976 SCV000023134 pathogenic Deficiency of acetyl-CoA acetyltransferase 1998-06-01 no assertion criteria provided literature only

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