ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)

dbSNP: rs1057520091
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000424025 SCV000510893 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Natera, Inc. RCV001828394 SCV002090066 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-10-13 no assertion criteria provided clinical testing

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