ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.60G>C (p.Arg20=) (rs77311724)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173048 SCV000224127 uncertain significance not provided 2014-07-08 criteria provided, single submitter clinical testing
Invitae RCV001086332 SCV001017178 benign Deficiency of acetyl-CoA acetyltransferase 2020-11-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001086332 SCV001456954 likely benign Deficiency of acetyl-CoA acetyltransferase 2020-05-29 no assertion criteria provided clinical testing

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