ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.435+78A>C

gnomAD frequency: 0.49701  dbSNP: rs10890817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548824 SCV001768793 benign Deficiency of acetyl-CoA acetyltransferase 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001676050 SCV001894487 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001676050 SCV005233425 benign not provided criteria provided, single submitter not provided

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